المؤلفون: Ibrahim Sandokji, Jonathan Marquez, Weizhen Ji, Cynthia A. Zerillo, Monica Konstantino, Saquib A. Lakhani, Mustafa K. Khokha, Jillian K. Warejko

المصدر: BMC Nephrology, Vol 20, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Whole exome sequencing, Genetics, Inherited diseases, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12882-019-1458-z; https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/6e66b4c73d0842e894259d5ccb549e3c

المؤلفون: Matthew P. O’Brien, Marina V. Pryzhkova, Evelyn M. R. Lake, Francesca Mandino, Xilin Shen, Ruchika Karnik, Alisa Atkins, Michelle J. Xu, Weizhen Ji, Monica Konstantino, Martina Brueckner, Laura R. Ment, Mustafa K. Khokha, Philip W. Jordan

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 1, p 430 (2023)

مصطلحات موضوعية: congenital heart disease, neurodevelopment, functional MRI, functional connectivity, hypoplastic left heart syndrome, cardiomyocytes, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/1/430; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/5e913b781ba2448aafbf6fb6c995f84b

الاتاحة: https://doi.org/10.3390/ijms25010430
https://doaj.org/article/5e913b781ba2448aafbf6fb6c995f84b

المؤلفون: Samir Al‐Ali, Lauren Jeffries, E. Vincent S. Faustino, Weizhen Ji, Emily Mis, Monica Konstantino, Cynthia Zerillo, Yong‐hui Jiang, Michele Spencer‐Manzon, Allen Bale, Hui Zhang, Julie McGlynn, James M. McGrath, Thierry Tremblay, Nina N. Brodsky, Carrie L. Lucas, Richard Pierce, Engin Deniz, Mustafa K. Khokha, Saquib A. Lakhani

المصدر: American Journal of Medical Genetics Part A. 188:2869-2878

مصطلحات موضوعية: Cohort Studies, Phenotype, Genetics, High-Throughput Nucleotide Sequencing, Humans, Genetic Testing, Genomics, Genetics (clinical), Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef77a8abfc31faac3a8bee1d4be1d174
https://doi.org/10.1002/ajmg.a.62918

المؤلفون: Mustafa K. Khokha, Thomas Mitzelfelt, Monica Konstantino, Weizhen Ji, Tracy Cartwright, Emily K Mis, Annalisa G Sega, Stanley F. Nelson, Hane Lee, Lauren Jeffries, Elysa J. Marco, Martin G. Martin, Christina G.S. Palmer, Rebecca Signer, Saquib A. Lakhani, Julian A. Martinez-Agosto

المصدر: Am J Med Genet A

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Adolescent, Developmental Disabilities, Functional testing, Xenopus, 030105 genetics & heredity, Article, Xenopus laevis, 03 medical and health sciences, Seizures, In vivo, Basic Helix-Loop-Helix Transcription Factors, Genetics, Animals, Humans, Missense mutation, Child, Transcription factor, Genetics (clinical), Loss function, biology, Neuropeptides, Brain, biology.organism_classification, Phenotype, Disease Models, Animal, 030104 developmental biology, Larva, NEUROD2, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e0f50dfbdd8d5d37609427a36b3f9d
https://doi.org/10.1002/ajmg.a.62064

المؤلفون: Saquib A. Lakhani, Monica Konstantino, Andrew J. Rice, Weizhen Ji, Joel P Brooks, Amy Cruickshank, Elif Dokmeci, Carrie L. Lucas, Jasmeen Dara, Michael S. Hershfield, Stephen M. Lanahan

المصدر: Journal of Clinical Immunology. 41:680-683

مصطلحات موضوعية: medicine.medical_specialty, Medical microbiology, business.industry, Immunology, medicine, MEDLINE, Immunology and Allergy, Presentation (obstetrics), medicine.disease_cause, business, Epstein–Barr virus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::389b28e54b3b0e24391a1b245149fbc8
https://doi.org/10.1007/s10875-020-00940-1

المؤلفون: Emily K Mis, Mustafa K. Khokha, Weizhen Ji, Lauren Jeffries, Saquib A. Lakhani, Monica Konstantino, Michele Spencer-Manzon, Samir Al-Ali

المصدر: American Journal of Medical Genetics Part A. 182:2291-2296

مصطلحات موضوعية: Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence, business.industry, Genetics, Medicine, business, Pathogenicity, Bioinformatics, medicine.disease, Functional analysis (psychology), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f53f601fe00a0b81d7db5cc105c754c8
https://doi.org/10.1002/ajmg.a.61783

المؤلفون: Eugen Widmeier, Raffaella A. Morotti, Emily K Mis, Velibor Tasic, Kathya Arana, Jonathan Marquez, Monica Konstantino, Julia Baptista, Mustafa K. Khokha, Charu Deshpande, Julie A. McGlynn, Hannah Hugo, Saquib A. Lakhani, Martin Konrad, Friedhelm Hildebrandt, Nina Mann, Lauren Jeffries, Weizhen Ji, Sian Ellard, Engin Deniz

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, renal medicine, Xenopus, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, developmental, Genetics (clinical), Tissue homeostasis, Cystic kidney, Kidney, Developmental Defects, biology, Cilium, biology.organism_classification, medicine.disease, Phenotype, 3. Good health, Ciliopathy, 030104 developmental biology, medicine.anatomical_structure, molecular genetics, hydrocephalus, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9fa42ef0f8d78dd5e39e35cf436dda
https://doi.org/10.1136/jmedgenet-2019-106805

المؤلفون: Jane E. Brumbaugh, Betty R. Vohr, Edward F. Bell, Carla M. Bann, Colm P. Travers, Elisabeth C. McGowan, Heidi M. Harmon, Waldemar A. Carlo, Andrea F. Duncan, Susan R. Hintz, Alan H. Jobe, Michael S. Caplan, Richard A. Polin, Abbot R. Laptook, Martin Keszler, Angelita M. Hensman, Barbara Alksninis, Carmena Bishop, Robert T. Burke, Melinda Caskey, Laurie Hoffman, Katharine Johnson, Mary Lenore Keszler, Andrea M. Knoll, Vita Lamberson, Teresa M. Leach, Emilee Little, Bonnie E. Stephens, Elisa Vieira, Lucille St. Pierre, Suzy Ventura, Victoria E. Watson, Anna Maria Hibbs, Michele C. Walsh, Deanne E. Wilson-Costello, Nancy S. Newman, Monika Bhola, Allison H. Payne, Bonnie S. Siner, Gulgun Yalcinkaya, William E. Truog, Eugenia K. Pallotto, Howard W. Kilbride, Cheri Gauldin, Anne Holmes, Kathy Johnson, Allison Scott, Prabhu S. Parimi, Lisa Gaetano, Brenda B. Poindexter, Kurt Schibler, Suhas G. Kallapur, Edward F. Donovan, Stephanie Merhar, Cathy Grisby, Kimberly Yolton, Barbara Alexander, Traci Beiersdorfer, Kate Bridges, Tanya E. Cahill, Juanita Dudley, Estelle E. Fischer, Teresa L. Gratton, Devan Hayes, Jody Hessling, Lenora D. Jackson, Kristin Kirker, Holly L. Mincey, Greg Muthig, Sara Stacey, Jean J. Steichen, Stacey Tepe, Julia Thompson, Sandra Wuertz, C. Michael Cotten, Ronald N. Goldberg, Ricki F. Goldstein, William F. Malcolm, Deesha Mago-Shah, Patricia L. Ashley, Joanne Finkle, Kathy J. Auten, Kimberley A. Fisher, Sandra Grimes, Kathryn E. Gustafson, Melody B. Lohmeyer, Matthew M. Laughon, Carl L. Bose, Janice Bernhardt, Gennie Bose, Cindy Clark, Jennifer Talbert, Diane Warner, Andrea Trembath, T. Michael O'Shea, Janice Wereszczak, Stephen D. Kicklighter, Ginger Rhodes-Ryan, Donna White, Ravi M. Patel, David P. Carlton, Barbara J. Stoll, Ellen C. Hale, Yvonne C. Loggins, Ira Adams-Chapman, Ann Blackwelder, Diane I. Bottcher, Sheena L. Carter, Salathiel Kendrick-Allwood, Judith Laursen, Maureen Mulligan LaRossa, Colleen Mackie, Amy Sanders, Irma Seabrook, Gloria Smikle, Lynn C. Wineski, Rosemary D. Higgins, Andrew A. Bremer, Stephanie Wilson Archer, Gregory M. Sokol, Anna M. Dusick, Lu Ann Papile, Susan Gunn, Faithe Hamer, Dianne E. Herron, Abbey C. Hines, Carolyn Lytle, Lucy C. Miller, Heike M. Minnich, Leslie Richard, Lucy Smiley, Leslie Dawn Wilson, Jon E. Tyson, Kathleen A. Kennedy, Amir M. Khan, Andrea Duncan, Ricardo Mosquera, Emily K. Stephens, Georgia E. McDavid, Nora I. Alaniz, Elizabeth Allain, Julie Arldt-McAlister, Katrina Burson, Allison G. Dempsey, Elizabeth Eason, Patricia W. Evans, Carmen Garcia, Charles Green, Donna Hall, Beverly Foley Harris, Margarita Jiminez, Janice John, Patrick M. Jones, M. Layne Lillie, Anna E. Lis, Karen Martin, Sara C. Martin, Carrie M. Mason, Shannon McKee, Brenda H. Morris, Kimberly Rennie, Shawna Rodgers, Saba Khan Siddiki, Maegan C. Simmons, Daniel Sperry, Patti L. Pierce Tate, Sharon L. Wright, Pablo J. Sánchez, Leif D. Nelin, Sudarshan R. Jadcherla, Jonathan L. Slaughter, Keith O. Yeates, Sarah Keim, Nathalie L. Maitre, Christopher J. Timan, Patricia Luzader, Erna Clark, Christine A. Fortney, Julie Gutentag, Courtney Park, Julie Shadd, Margaret Sullivan, Melanie Stein, Mary Ann Nelin, Julia Newton, Kristi Small, Stephanie Burkhardt, Jessica Purnell, Lindsay Pietruszewski, Katelyn Levengood, Nancy Batterson, Pamela Morehead, Helen Carey, Lina Yoseff-Salameh, Rox Ann Sullivan, Cole Hague, Jennifer Grothause, Erin Fearns, Aubrey Fowler, Jennifer Notestine, Jill Tonneman, Krystal Hay, Michelle Chao, Kyrstin Warnimont, Laura Marzec, Bethany Miller, Demi R. Beckford, Hallie Baugher, Brittany DeSantis, Cory Hanlon, Jacqueline McCool, Abhik Das, Marie G. Gantz, Dennis Wallace, Margaret M. Crawford, Jenna Gabrio, David Leblond, Jamie E. Newman, Carolyn M. Petrie Huitema, Jeanette O'Donnell Auman, W. Kenneth Poole, Kristin M. Zaterka-Baxter, Krisa P. Van Meurs, Valerie Y. Chock, David K. Stevenson, Marian M. Adams, M. Bethany Ball, Barbara Bentley, Elizabeth Bruno, Alexis S. Davis, Maria Elena DeAnda, Anne M. DeBattista, Lynne C. Huffman, Magdy Ismael, Jean G. Kohn, Casey Krueger, Janice Lowe, Ryan E. Lucash, Andrew W. Palmquist, Jessica Patel, Melinda S. Proud, Elizabeth N. Reichert, Nicholas H. St. John, Dharshi Sivakumar, Heather L. Taylor, Natalie Wager, R. Jordan Williams, Hali Weiss, Ivan D. Frantz, John M. Fiascone, Brenda L. MacKinnon, Anne Furey, Ellen Nylen, Paige T. Church, Cecelia E. Sibley, Ana K. Brussa, Namasivayam Ambalavanan, Myriam Peralta-Carcelen, Kathleen G. Nelson, Kirstin J. Bailey, Fred J. Biasini, Stephanie A. Chopko, Monica V. Collins, Shirley S. Cosby, Kristen C. Johnston, Mary Beth Moses, Cryshelle S. Patterson, Vivien A. Phillips, Julie Preskitt, Richard V. Rector, Sally Whitley, Uday Devaskar, Meena Garg, Isabell B. Purdy, Teresa Chanlaw, Rachel Geller, Neil N. Finer, Yvonne E. Vaucher, David Kaegi, Maynard R. Rasmussen, Kathy Arnell, Clarence Demetrio, Martha G. Fuller, Wade Rich, Tarah T. Colaizy, John A. Widness, Michael J. Acarregui, Karen J. Johnson, Diane L. Eastman, Claire A. Goeke, Mendi L. Schmelzel, Jacky R. Walker, Michelle L. Baack, Laurie A. Hogden, Megan Broadbent, Chelsey Elenkiwich, Megan M. Henning, Sarah Van Muyden, Dan L. Ellsbury, Donia B. Campbell, Tracy L. Tud, Shahnaz Duara, Charles R. Bauer, Ruth Everett-Thomas, Sylvia Fajardo-Hiriart, Arielle Rigaud, Maria Calejo, Silvia M. Frade Eguaras, Michelle Harwood Berkowits, Andrea Garcia, Helina Pierre, Alexandra Stoerger, Kristi L. Watterberg, Janell Fuller, Robin K. Ohls, Sandra Sundquist Beauman, Conra Backstrom Lacy, Mary Hanson, Carol Hartenberger, Elizabeth Kuan, Jean R. Lowe, Rebecca A. Thomson, Sara B. DeMauro, Eric C. Eichenwald, Barbara Schmidt, Haresh Kirpalani, Aasma S. Chaudhary, Soraya Abbasi, Toni Mancini, Christine Catts, Noah Cook, Dara M. Cucinotta, Judy C. Bernbaum, Marsha Gerdes, Sarvin Ghavam, Hallam Hurt, Jonathan Snyder, Saritha Vangala, Kristina Ziolkowski, Carl T. D'Angio, Dale L. Phelps, Ronnie Guillet, Gary J. Myers, Michelle Andrews-Hartley, Julie Babish Johnson, Kyle Binion, Melissa Bowman, Elizabeth Boylin, Erica Burnell, Kelly R. Coleman, Cait Fallone, Osman Farooq, Julianne Hunn, Diane Hust, Rosemary L. Jensen, Rachel Jones, Jennifer Kachelmeyer, Emily Kushner, Deanna Maffett, Kimberly G. McKee, Joan Merzbach, Constance Orme, Diane Prinzing, Linda J. Reubens, Daisy Rochez, Mary Rowan, Premini Sabaratnam, Ann Marie Scorsone, Holly I.M. Wadkins, Kelley Yost, Lauren Zwetsch, Satyan Lakshminrusimha, Anne Marie Reynolds, Michael G. Sacilowski, Stephanie Guilford, Emily Li, Ashley Williams, William A. Zorn, Myra H. Wyckoff, Luc P. Brion, Walid A. Salhab, Charles R. Rosenfeld, Roy J. Heyne, Diana M. Vasil, Sally S. Adams, Lijun Chen, Maria M. De Leon, Francis Eubanks, Alicia Guzman, Gaynelle Hensley, Elizabeth T. Heyne, Lizette E. Lee, Melissa H. Leps, Linda A. Madden, E. Rebecca McDougald, Nancy A. Miller, Janet S. Morgan, Lara Pavageau, Pollieanna Sepulveda, Kristine Tolentino-Plata, Cathy Twell Boatman, Azucena Vera, Jillian Waterbury, Bradley A. Yoder, Mariana Baserga, Roger G. Faix, Sarah Winter, Stephen D. Minton, Mark J. Sheffield, Carrie A. Rau, Shawna Baker, Karie Bird, Jill Burnett, Susan Christensen, Laura Cole-Bledsoe, Brandy Davis, Jennifer O. Elmont, Jennifer J. Jensen, Manndi C. Loertscher, Jamie Jordan, Trisha Marchant, Earl Maxson, Kandace M. McGrath, Karen A. Osborne, D. Melody Parry, Brixen A. Reich, Susan T. Schaefer, Cynthia Spencer, Michael Steffen, Katherine Tice, Kimberlee Weaver-Lewis, Kathryn D. Woodbury, Karen Zanetti, Robert G. Dillard, Lisa K. Washburn, Barbara G. Jackson, Nancy Peters, Korinne Chiu, Deborah Evans Allred, Donald J. Goldstein, Raquel Halfond, Carroll Peterson, Ellen L. Waldrep, Cherrie D. Welch, Melissa Whalen Morris, Gail Wiley Hounshell, Seetha Shankaran, Beena G. Sood, Girija Natarajan, Athina Pappas, Katherine Abramczyk, Prashant Agarwal, Monika Bajaj, Rebecca Bara, Elizabeth Billian, Sanjay Chawla, Kirsten Childs, Lilia C. De Jesus, Debra Driscoll, Melissa February, Laura A. Goldston, Mary E. Johnson, Geraldine Muran, Bogdan Panaitescu, Jeannette E. Prentiss, Diane White, Eunice Woldt, John Barks, Stephanie A. Wiggins, Mary K. Christensen, Martha D. Carlson, Richard A. Ehrenkranz, Harris Jacobs, Christine G. Butler, Patricia Cervone, Sheila Greisman, Monica Konstantino, JoAnn Poulsen, Janet Taft, Joanne Williams, Elaine Romano

المصدر: The Journal of Pediatrics. :113443

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c4eeffcb47cf579399d103028cebeed1
https://doi.org/10.1016/j.jpeds.2023.113443

المؤلفون: Steven J. Lobritto, Albert Chan, Annalisa G. Sega, Alina C. Iuga, Johanna Mosorin, Weizhen Ji, Moshe Finel, Saquib A. Lakhani, Walaa Elfar, Erkka Järvinen, Monica Konstantino

المصدر: Drug Metabolism and Disposition. 47:45-48

مصطلحات موضوعية: Pharmacology, Sanger sequencing, Genetics, Mutation, medicine.diagnostic_test, Sequence analysis, Crigler–Najjar syndrome, Pharmaceutical Science, Biology, medicine.disease_cause, medicine.disease, digestive system, 030226 pharmacology & pharmacy, 03 medical and health sciences, symbols.namesake, Uridine diphosphate, chemistry.chemical_compound, 0302 clinical medicine, chemistry, 030220 oncology & carcinogenesis, medicine, symbols, Gene, Function (biology), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a715889fda66403849afe2256f5663ef
https://doi.org/10.1124/dmd.118.084368

المؤلفون: Jean R. Lowe, Yvonne E. Vaucher, Ira Adams-Chapman, Elizabeth F. Bruno, Paul Zlotnik, Kristin M. Zaterka-Baxter, Nancy Close, Alicia Guzman, Susan R. Hintz, Amanda Soong, Wade Rich, Alexandra Stroerger, Seetha Shankaran, Saba Siddiki, Sharon L. Wright, Kimberlee Weaver-Lewis, Gary David Markowitz, Linda Black, Anne M. DeBattista, Donald J. Goldstein, Monika Bhola, Marcia Worley Mersmann, Brenda H. Morris, Vivek Narendran, Patricia L. Ashley, Theresa M. Leach, Barbara J. Stoll, Gail Hounshell, Kim Francis, M. Bethany Ball, Laura A. Goldston, Michele C. Walsh, Amy K. Hutchinson, Tarah T. Colaizy, David K. Stevenson, Lisa K. Washburn, Meghan Lukasik, Abhik Das, Linda J. Reubens, Maureen Mulligan LaRossa, Rene Barbieri-Welge, John M. Fiascone, Ann B. Cook, Jon E. Tyson, Carlos Torres, Renee Bridge, Melinda S. Proud, John A. Widness, Stephanie Wilson Archer, Kathleen G. Nelson, Kristi L. Watterberg, Katherine A. Foy, Abbot R. Laptook, Dan Gingras, Bradley A. Yoder, Michelle Harwood Berkowits, Richard A. Ehrenkranz, Janet Taft, Neil N. Finer, Fred J. Biasini, J. M. DiFiore, James P. Kiley, Anthony J. Piazza, Shahnaz Duara, William F. Malcolm, Lizette E. Torres, Kathy J. Auten, Dianne E. Herron, Mike Steffens, Nancy Peters, Sally Whitley, Nancy S. Newman, Charles R. Rosenfeld, Nancy A. Miller, Sarah Martin, Beverly Foley Harris, Conra Backstrom Lacy, Linda A. Madden, Gloria V. Smikle, Kathy Arnell, Kristen C. Johnston, Anna M. Dusick, Martha G. Fuller, Heike M. Minnich, Vineet Bhandari, Donna Posin, Kate Bridges, Martha R. Leonard, Roy J. Heyne, Noelle Younge, Christine G. Butler, Patricia Gettner, Carolyn M. Petrie Huitema, Sharon F. Freedman, Rachel V. Walden, Helina Pierre, Waldemar A. Carlo, Robert G. Dillard, Joanne Williams, Ellen Nylen, Margarita Jiminez, Victoria E. Watson, Sheena L. Carter, Richard V. Rector, Barbara Alksninis, David Wang, Bill Cashore, Kimberley A. Fisher, Susie Buchter, Michael J. Acarregui, Bonnie E. Stephens, Alexis N. Diaz, W. Kenneth Poole, Ana K. Brussa, Alexis S. Davis, Carolyn Lytle, Jill Burnett, Laura Grau, Bonnie S. Siner, Melissa Whalen Morris, Karen A. Osborne, Melinda Caskey, Cryshelle S. Patterson, Renee P. Pyle, Laura L. Whitely, Harriet Friedman, Sheree York, Kelley Yost, Emily Kushner, Rebecca Bara, Cathy Grisby, Arlene Zadell, Barbara D. Alexander, Ivan D. Frantz, Myriam Peralta-Carcelen, James W. Pickett, Karen J. Johnson, Sheila Greisman, Susan Barnett, Beena G. Sood, Ann M. Blackwelder, Catherine Twell Boatman, Gary J. Myers, Athina Pappas, Ariel A. Salas, Jean G. Kohn, Ayala Ben-Tall, Ellen C. Hale, Brenda B. Poindexter, Rosemary D. Higgins, Elisabeth Dinkins, Elizabeth T. Heyne, Teresa L. Gratton, Kerry Wilder, Jonathan W. Mink, Regina A. Gargus, Deanne E. Wilson-Costello, Rebecca Montman, Charles R. Bauer, Dale L. Phelps, Jamie E. Newman, Leslie Dawn Wilson, Pablo J. Sánchez, Alan H. Jobe, Monica Konstantino, Melody B. Lohmeyer, Monica V. Collins, Charles Green, Hali E. Weiss, Elizabeth Billian, Dorothy B. Gail, Clarence Demetrio, Kurt Schibler, Mary Anne Berberich, Leslie Rodriguez, David K. Wallace, Shabnam Lainwala, Betty R. Vohr, Sobha Fritz, Kasey Hamlin-Smith, William Oh, Deborah Pontillo, David P. Carlton, Cheryl Runyan, Arielle Riguard, Shawna Baker, Avroy A. Fanaroff, Sara Krzywanski, Shirley S. Cosby, Barbara Bentley, Gaynelle Hensley, Walid A. Salhab, Joan Merzbach, Cecelia E. Sibley, James Allen, Elaine Romano, C. Michael Cotten, Maria Hopkins, Vivien Phillips, Kimberly Yolton, Michael S. Caplan, Kathryn E. Gustafson, Andrea Milena Becerra Garcia, Kirstin J. Bailey, Margaret L. Poundstone, Diana M. Vasil, Cherrie D. Welch, Sarah Lillie, Ellen Waldrep, Jeanette O'Donnell Auman, Gulgun Yalcinkaya, Kalida Mehta, Patricia W. Evans, Harris Gelbard, Carroll Peterson, Angelita M. Hensman, Sylvia Hiriart-Fajardo, Edward F. Donovan, Barbara Do, James Wilkes, Marie G. Gantz, Nicholas H. St. John, Elaine O. Mathews, Harris C. Jacobs, Deborah Evans Allred, Rosemary L. Jensen, Suzy Ventura, Kathleen A. Kennedy, Dawn Andrews, Walter Gilliam, Kristen Angela, Mary Johnson, Katharine Johnson, Krisa P. Van Meurs, Barbara G. Jackson, Betty K. Hastings, Holly L. Mincey, Elisabeth C. McGowan, Brenda L. MacKinnon, JoAnn Poulsen, Pat Cervone, Edward F. Bell, T. Michael O'Shea, Janet S. Morgan, Elaine Ito, Julie Rohr, Ruth Everett-Thomas, Patti L. Pierce Tate, Laura Cole, Maria Calejo, Dennis Wallace, Paul Wozniak, Maynard Rasmussen, Robin K. Ohls, Lisa Augostino, Silvia M. Frade Eguaras, Faithe Hamer, Julie Babish Johnson, Karen Zanetti, Roger G. Faix, Maria Elena DeAnda, Ronald N. Goldberg, James A. Lemons, Diane Hust, Stacy Reddoch, Karie Bird, Jody Hessling, Araceli Solis, Carol J. Blaisdell, Raquel Halfond, Erica Burnell, Nirupama Laroia, Georgia E. McDavid, Namasivayam Ambalavanan, Sally S. Adams, Korinne Chiu, Cynthia Spencer, Lucy Noel, Melissa Martin, Nora I. Alaniz, James R. Moore, Ricki F. Goldstein, Janell Fuller, Melissa H. Lepps, Anne Furey, Diane L. Eastman, Jonathan M. Klein, Anna E. Lis

المصدر: J Pediatr

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Birth weight, medicine.medical_treatment, Gestational Age, Lower risk, Article, Child Development, Positive airway pressure, Intubation, Intratracheal, medicine, Humans, Intubation, Oximetry, Continuous positive airway pressure, Respiratory Distress Syndrome, Newborn, Continuous Positive Airway Pressure, business.industry, Infant, Newborn, Postmenstrual Age, Gestational age, Pulmonary Surfactants, Neurodevelopmental Disorders, Infant, Extremely Premature, Pediatrics, Perinatology and Child Health, Gestation, Female, Energy Intake, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc3d149db432547460c541fa858801f0
https://doi.org/10.1016/j.jpeds.2021.06.026

المؤلفون: Weizhen Ji, Lauren Jeffries, Lynne M. Bird, Monica Konstantino, Hirohito Shima, David Panisello-Manterola, James L. McGrath, Satoshi Narumi, Saquib A. Lakhani

المصدر: American Journal of Medical Genetics Part A. 176:415-420

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Hearing loss, Germline, 03 medical and health sciences, 0302 clinical medicine, Genetics, Risk of mortality, Adrenal insufficiency, Humans, Medicine, Enteropathy, Sex organ, Germ-Line Mutation, Genetics (clinical), business.industry, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Dysautonomia, medicine.disease, Natural history, Phenotype, 030104 developmental biology, Child, Preschool, Myelodysplastic Syndromes, 030220 oncology & carcinogenesis, Female, Chromosome Deletion, medicine.symptom, business, Chromosomes, Human, Pair 7, Adrenal Insufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a491e359791d26c00408090a389fcbd
https://doi.org/10.1002/ajmg.a.38557

المؤلفون: Emily K, Mis, Samir, Al-Ali, Weizhen, Ji, Michele, Spencer-Manzon, Monica, Konstantino, Mustafa K, Khokha, Lauren, Jeffries, Saquib A, Lakhani

المصدر: American journal of medical genetics. Part AREFERENCES. 182(10)

مصطلحات موضوعية: Arthrogryposis, Child, Preschool, Mutation, Humans, Membrane Proteins, Female, Genetic Predisposition to Disease, Nerve Tissue Proteins, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d5fa8fd2a61a0e44f045b2ddbb684de5
https://pubmed.ncbi.nlm.nih.gov/32812332

المؤلفون: Elisabeth C. McGowan, Abbot. R. Laptook, Jean Lowe, Myriam Peralta-Carcelen, Dhuly Chowdhury, Rosemary D. Higgins, Susan R. Hintz, Betty R. Vohr, Richard A. Polin, Abbott R. Laptook, Martin Keszler, Angelita M. Hensman, Barbara Alksninis, Kristin M. Basso, Robert Burke, Melinda Caskey, Katharine Johnson, Mary Lenore Keszler, Andrea M. Knoll, Theresa M. Leach, Emilee Little, Elisa Vieira, Victoria E. Watson, Suzy Ventura, Michele C. Walsh, Avroy A. Fanaroff, Anna Marie Hibbs, Deanne E. Wilson-Costello, Nancy S. Newman, Allison H. Payne, Bonnie S. Siner, Monika Bhola, Gulgun Yalcinkaya, Harriet G. Friedman, William E. Truog, Eugenia K. Pallotto, Howard W. Kilbride, Cheri Gauldin, Anne Holmes, Kathy Johnson, Allison Knutson, Kurt Schibler, Edward F. Donovan, Cathy Grisby, Kate Bridges, Barbara Alexander, Estelle E. Fischer, Holly L. Mincey, Jody Hessling, Teresa L. Gratton, Lenora Jackson, Kristin Kirker, Greg Muthig, Jean J. Steichen, Stacey Tepe, Kimberly Yolton, Ronald N. Goldberg, C. Michael Cotten, Ricki F. Goldstein, Patricia L. Ashley, William F. Malcolm, Kathy J. Auten, Kimberley A. Fisher, Sandra Grimes, Kathryn E. Gustafson, Melody B. Lohmeyer, Joanne Finkle, Matthew M. Laughon, Carl L. Bose, Janice Bernhardt, Gennie Bose, Cindy Clark, Linda Manor, Diane Warner, Janice Wereszczak, David P. Carlton, Barbara J. Stoll, Ira Adams-Chapman, Ellen C. Hale, Yvonne Loggins, Stephanie Wilson Archer, Gregory M. Sokol, Brenda B. Poindexter, Anna M. Dusick, Lu-Ann Papile, Susan Gunn, Faithe Hamer, Dianne E. Herron, Abbey C. Hines, Carolyn Lytle, Heike M. Minnich, Lucy Smiley, Leslie Dawn Wilson, Pablo J. Sanchez, Leif D. Nelin, Sudarshan R. Jadcherla, Patricia Luzader, Christine A. Fortney, Gail E. Besner, Nehal A. Parikh, Abhik Das, Dennis Wallace, Marie G. Gantz, W. Kenneth Poole, Jamie E. Newman, Jeanette O'Donnell Auman, Margaret M. Crawford, Carolyn M. Petrie Huitema, Kristin M. Zaterka-Baxter, Krisa P. Van Meurs, David K. Stevenson, M. Bethany Ball, Alexis S. Davis, Andrew W. Palmquist, Melinda S. Proud, Barbara Bentley, Elizabeth Bruno, Maria Elena DeAnda, Anne M. DeBattista, Beth Earhart, Lynne C. Huffman, Jean G. Kohn, Casey Krueger, Hali E. Weiss, Ivan D. Frantz, John M. Fiascone, Brenda L. MacKinnon, Anne Furey, Ellen Nylen, Waldemar A. Carlo, Namasivayam Ambalavanan, Monica V. Collins, Shirley S. Cosby, Fred J. Biasini, Kristen C. Johnston, Kathleen G. Nelson, Cryshelle S. Patterson, Vivien A. Phillips, Sally Whitley, Uday Devaskar, Meena Garg, Isabell B. Purdy, Teresa Chanlaw, Rachel Geller, Neil N. Finer, Yvonne E. Vaucher, David Kaegi, Maynard R. Rasmussen, Kathy Arnell, Clarence Demetrio, Martha G. Fuller, Wade Rich, Edward F. Bell, Tarah T. Colaizy, Michael J. Acarregui, Dan L. Ellsbury, John A. Widness, Karen J. Johnson, Donia B. Campbell, Diane L. Eastman, Jacky R. Walker, Jane E. Brumbaugh, Shahnaz Duara, Charles R. Bauer, Ruth Everett-Thomas, Sylvia Fajardo-Hiriart, Arielle Rigaud, Maria Calejo, Silvia M. Frade Eguaras, Michelle Harwood Berkowits, Andrea Garcia, Helina Pierre, Alexandra Stoerger, Kristi L. Watterberg, Jean R. Lowe, Janell F. Fuller, Robin K. Ohls, Conra Backstrom Lacy, Andrea F. Duncan, Rebecca Montman, Barbara Schmidt, Haresh Kirpalani, Sara B. DeMauro, Aasma S. Chaudhary, Soraya Abbasi, Toni Mancini, Dara M. Cucinotta, Judy C. Bernbaum, Marsha Gerdes, Hallam Hurt, Carl T. D'Angio, Dale L. Phelps, Ronnie Guillet, Satyan Lakshminrusimha, Julie Babish Johnson, Linda J. Reubens, Cassandra A. Horihan, Diane Hust, Rosemary L. Jensen, Emily Kushner, Joan Merzbach, Gary J. Myers, Mary Rowan, Holly I.M. Wadkins, Melissa Bowman, Julianne Hunn, Stephanie Guilford, Deanna Maffett, Farooq Osman, Diane Prinzing, Anne Marie Reynolds, Michael G. Sacilowski, Ashley Williams, Karen Wynn, Kelley Yost, William Zorn, Lauren Zwetsch, Kathleen A. Kennedy, Jon E. Tyson, Georgia E. McDavid, Nora I. Alaniz, Julie Arldt-McAlister, Katrina Burson, Patricia W. Evans, Carmen Garcia, Charles Green, Beverly Foley Harris, Margarita Jiminez, Janice John, Patrick M. Jones, Layne M. Lillie, Anna E. Lis, Karen Martin, Sara C. Martin, Brenda H. Morris, M. Layne Poundstone, Peggy Robichaux, Shawna Rodgers, Saba Siddiki, Maegan C. Simmons, Daniel Sperry, Patti L. Pierce Tate, Sharon L. Wright, Myra H. Wyckoff, Luc P. Brion, Roy J. Heyne, Walid A. Salhab, Charles R. Rosenfeld, Diana M. Vasil, Lijun Chen, Alicia Guzman, Gaynelle Hensley, Melissa H. Leps, Nancy A. Miller, Janet S. Morgan, Sally S. Adams, Catherine Twell Boatman, Elizabeth T. Heyne, Linda A. Madden, Lizette E. Torres, Roger G. Faix, Bradley A. Yoder, Karen A. Osborne, Cynthia Spencer, Kimberlee Weaver-Lewis, Shawna Baker, Karie Bird, Jill Burnett, Michael Steffen, Jennifer J. Jensen, Sarah Winter, Karen Zanetti, T. Michael O'Shea, Robert G. Dillard, Lisa K. Washburn, Barbara G. Jackson, Nancy Peters, Korinne Chiu, Deborah Evans Allred, Donald J. Goldstein, Raquel Halfond, Carroll Peterson, Ellen L. Waldrep, Cherrie D. Welch, Melissa Whalen Morris, Gail Wiley Hounshell, Seetha Shankaran, Athina Pappas, John Barks, Rebecca Bara, Laura A. Goldston, Girija Natarajan, Mary Christensen, Stephanie A. Wiggins, Diane White, Richard A. Ehrenkranz, Harris Jacobs, Christine G. Butler, Patricia Cervone, Sheila Greisman, Monica Konstantino, JoAnn Poulsen, Janet Taft, Joanne Williams, Elaine Romano

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Time Factors, Birth weight, Gestational Age, Prenatal care, Article, 03 medical and health sciences, 0302 clinical medicine, Child Development, stomatognathic system, Pregnancy, 030225 pediatrics, medicine, Hospital discharge, Humans, 030212 general & internal medicine, School education, Retrospective Studies, business.industry, Extremely preterm, Child Protective Services, Infant, Newborn, Infant, Cognition, Prenatal Care, Patient Discharge, United States, stomatognathic diseases, Foster care, Increased risk, Child, Preschool, Infant, Extremely Premature, Pediatrics, Perinatology and Child Health, Female, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df173ee269b38712a82b28e3ce79252
https://europepmc.org/articles/PMC6988387/

المؤلفون: Jane E. Brumbaugh, Edward F. Bell, Scott F. Grey, Sara B. DeMauro, Betty R. Vohr, Heidi M. Harmon, Carla M. Bann, Matthew A. Rysavy, J. Wells Logan, Tarah T. Colaizy, Myriam A. Peralta-Carcelen, Elisabeth C. McGowan, Andrea F. Duncan, Barbara J. Stoll, Abhik Das, Susan R. Hintz, Michael S. Caplan, Richard A. Polin, Abbot R. Laptook, Martin Keszler, Angelita M. Hensman, Elisa Vieira, Emilee Little, Robert T. Burke, Bonnie E. Stephens, Barbara Alksninis, Carmena Bishop, Mary L. Keszler, Teresa M. Leach, Victoria E. Watson, Andrea M. Knoll, Michele C. Walsh, Avroy A. Fanaroff, Nancy S. Newman, Deanne E. Wilson-Costello, Allison Payne, Monika Bhola, Gulgun Yalcinkaya, Bonnie S. Siner, Harriet G. Friedman, Elizabeth Roth, William E. Truog, Eugenia K. Pallotto, Howard W. Kilbride, Cheri Gauldin, Anne Holmes, Kathy Johnson, Allison Knutson, Kurt Schibler, Brenda B. Poindexter, Stephanie Merhar, Kimberly Yolton, Teresa L. Gratton, Cathy Grisby, Kristin Kirker, Sandra Wuertz, David P. Carlton, Ira Adams-Chapman, Ellen C. Hale, Yvonne C. Loggins, Diane I. Bottcher, Colleen Mackie, Sheena L. Carter, Maureen Mulligan LaRossa, Lynn C. Wineski, Gloria V. Smikle, Angela Leon-Hernandez, Salathiel Kendrick-Allwood, C. Michael Cotten, Ronald N. Goldberg, Ricki F. Goldstein, William F. Malcolm, Patricia L. Ashley, Joanne Finkle, Kimberley A. Fisher, Sandra Grimes, Kathryn E. Gustafson, Matthew M. Laughon, Carl L. Bose, Janice Bernhardt, Gennie Bose, Diane Warner, Janice Wereszczak, Stephen D. Kicklighter, Ginger Rhodes-Ryan, Rosemary D. Higgins, Stephanie Wilson Archer, Gregory M. Sokol, Lu Ann Papile, Abbey C. Hines, Dianne E. Herron, Susan Gunn, Lucy Smiley, Kathleen A. Kennedy, Jon E. Tyson, Julie Arldt-McAlister, Katrina Burson, Allison G. Dempsey, Patricia W. Evans, Carmen Garcia, Margarita Jiminez, Janice John, Patrick M. Jones, M. Layne Lillie, Karen Martin, Sara C. Martin, Georgia E. McDavid, Shawna Rodgers, Saba Khan Siddiki, Daniel Sperry, Patti L. Pierce Tate, Sharon L. Wright, Pablo J. Sánchez, Leif D. Nelin, Sudarshan R. Jadcherla, Patricia Luzader, Christine A. Fortney, Gail E. Besner, Nehal A. Parikh, Dennis Wallace, Marie G. Gantz, Jamie E. Newman, Jeanette O'Donnell Auman, Margaret Crawford, Jenna Gabrio, David Leblond, Carolyn M. Petrie Huitema, Kristin M. Zaterka-Baxter, Krisa P. Van Meurs, Valerie Y. Chock, David K. Stevenson, Marian M. Adams, M. Bethany Ball, Barbara Bentley, Maria Elena DeAnda, Anne M. Debattista, Beth Earhart, Lynne C. Huffman, Magdy Ismael, Casey E. Krueger, Andrew W. Palmquist, Melinda S. Proud, Elizabeth N. Reichert, Meera N. Sankar, Nicholas H. St. John, Heather L. Taylor, Hali E. Weiss, Ivan D. Frantz, John M. Fiascone, Brenda L. MacKinnon, Ellen Nylen, Anne Furey, Cecelia E. Sibley, Ana K. Brussa, Waldemar A. Carlo, Namasivayam Ambalavanan, Kirstin J. Bailey, Fred J. Biasini, Monica V. Collins, Shirley S. Cosby, Vivien A. Phillips, Richard V. Rector, Sally Whitley, Uday Devaskar, Meena Garg, Isabell B. Purdy, Teresa Chanlaw, Rachel Geller, Neil N. Finer, Yvonne E. Vaucher, David Kaegi, Maynard R. Rasmussen, Kathy Arnell, Clarence Demetrio, Martha G. Fuller, Wade Rich, Radmila West, Michelle L. Baack, Dan L. Ellsbury, Laurie A. Hogden, Jonathan M. Klein, John M. Dagle, Karen J. Johnson, Tracy L. Tud, Chelsey Elenkiwich, Megan M. Henning, Megan Broadbent, Mendi L. Schmelzel, Jacky R. Walker, Claire A. Goeke, Kristi L. Watterberg, Robin K. Ohls, Conra Backstrom Lacy, Sandra Brown, Janell Fuller, Carol Hartenberger, Jean R. Lowe, Sandra Sundquist Beauman, Mary Ruffner Hanson, Tara Dupont, Elizabeth Kuan, Barbara Schmidt, Haresh Kirpalani, Aasma S. Chaudhary, Soraya Abbasi, Toni Mancini, Dara M. Cucinotta, Judy C. Bernbaum, Marsha Gerdes, Hallam Hurt, Carl T. D'Angio, Ronnie Guillet, Gary J. Myers, Satyan Lakshminrusimha, Anne Marie Reynolds, Michelle E. Hartley-McAndrew, Holly I.M. Wadkins, Michael G. Sacilowski, Linda J. Reubens, Rosemary L. Jensen, Joan Merzbach, William Zorn, Osman Farooq, Deanna Maffett, Ashley Williams, Julianne Hunn, Stephanie Guilford, Kelley Yost, Mary Rowan, Diane M. Prinzing, Karen Wynn, Cait Fallone, Ann Marie Scorsone, Myra H. Wyckoff, Luc P. Brion, Roy J. Heyne, Diana M. Vasil, Sally S. Adams, Lijun Chen, Maria M. De Leon, Frances Eubanks, Alicia Guzman, Elizabeth T. Heyne, Linda A. Madden, Nancy A. Miller, Lizette E. Lee, Lara Pavageau, Pollieanna Sepulveda, Cathy Twell Boatman, Roger G. Faix, Bradley A. Yoder, Mariana Baserga, Karen A. Osborne, Shawna Baker, Karie Bird, Jill Burnett, Susan Christensen, Brandy Davis, Jennifer O. Elmont, Jennifer J. Jensen, Manndi C. Loertscher, Trisha Marchant, Earl Maxson, Stephen D. Minton, D. Melody Parry, Carrie A. Rau, Susan T. Schaefer, Mark J. Sheffield, Cynthia Spencer, Mike Steffen, Kimberlee Weaver-Lewis, Sarah Winter, Kathryn D. Woodbury, Karen Zanetti, Seetha Shankaran, Sanjay Chawla, Beena G. Sood, Athina Pappas, Girija Natarajan, Monika Bajaj, Rebecca Bara, Mary E. Johnson, Laura Goldston, Stephanie A. Wiggins, Mary K. Christensen, Martha Carlson, John Barks, Diane F. White, Richard A. Ehrenkranz, Harris Jacobs, Christine G. Butler, Patricia Cervone, Sheila Greisman, Monica Konstantino, JoAnn Poulsen, Janet Taft, Elaine Romano

المصدر: The Journal of pediatrics. 219

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, CBCL, behavioral disciplines and activities, Language Development, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Cognition, 030225 pediatrics, mental disorders, Medicine, Humans, 030212 general & internal medicine, Prospective Studies, Child Behavior Checklist, Motor skill, Bronchopulmonary Dysplasia, Problem Behavior, business.industry, Confounding, Postmenstrual Age, Infant, Newborn, medicine.disease, Bronchopulmonary dysplasia, Motor Skills, Child, Preschool, Infant, Extremely Premature, Pediatrics, Perinatology and Child Health, Infant Behavior, Gestation, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0cab4edc84a6b9e58c647ffe9a5768f
https://pubmed.ncbi.nlm.nih.gov/33484029

المؤلفون: Catherine, Kiraly-Borri, Gareth, Jevon, Weizhen, Ji, Lauren, Jeffries, Jamie-Lee, Ricciardi, Monica, Konstantino, Kate G, Ackerman, Saquib A, Lakhani

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Lung Diseases, Research Report, Heterozygote, nonimmune hydrops fetalis, serous pericardial effusion, EEG with burst suppression, Genes, Recessive, hydrops fetalis, Fatal Outcome, Leukoencephalopathies, Exome Sequencing, mixed respiratory and metabolic acidosis, Humans, Abnormalities, Multiple, Frameshift Mutation, Lung, pulmonary hypoplasia, Siblings, Alanine-tRNA Ligase, Infant, Newborn, concentric hypertrophic cardiomyopathy, transudative pleural effusion, Mitochondria, Pedigree, Phenotype, Amino Acid Substitution

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2ae89a60c1dd7b494c1e8919664883ff
https://pubmed.ncbi.nlm.nih.gov/30819764

المؤلفون: Walaa, Elfar, Erkka, Järvinen, Weizhen, Ji, Johanna, Mosorin, Annalisa G, Sega, Alina C, Iuga, Steven J, Lobritto, Monica, Konstantino, Albert, Chan, Moshe, Finel, Saquib A, Lakhani

المصدر: Drug metabolism and disposition: the biological fate of chemicals. 47(1)

مصطلحات موضوعية: Male, Sudan, Child, Preschool, Homozygote, Humans, Genetic Testing, Glucuronosyltransferase, Crigler-Najjar Syndrome, Liver Transplantation, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a25c7782d7a51166afb71a5aedb1c9d6
https://pubmed.ncbi.nlm.nih.gov/30385458

المؤلفون: Emily K Mis, Jane Juusola, Saadet Mercimek-Andrews, Mustafa K. Khokha, Weizhen Ji, Megan T. Cho, Monica Konstantino, Annalisa G Sega, Lauren Jeffries, Saquib A. Lakhani, Kristin Lindstrom

المصدر: Journal of medical genetics. 56(2)

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Xenopus, Mutation, Missense, Gene Expression, Disease, 030105 genetics & heredity, Bioinformatics, Animals, Genetically Modified, 03 medical and health sciences, Xenopus laevis, Genome editing, Exome Sequencing, Genetics, Basic Helix-Loop-Helix Transcription Factors, CRISPR, Animals, Humans, Genetics (clinical), Exome sequencing, biology, Neuropeptides, biology.organism_classification, Magnetic Resonance Imaging, 030104 developmental biology, NEUROD2, Child, Preschool, Gene Knockdown Techniques, Larva, Etiology, Female, CRISPR-Cas Systems, Spasms, Infantile

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86aa39ffed8782ee1988878a9c5c6636
https://pubmed.ncbi.nlm.nih.gov/30323019

المؤلفون: Lauren Jeffries, Michele Spencer-Manzon, Weizhen Ji, Allen E. Bale, Saquib A. Lakhani, Monica Konstantino, Jordan E. Olivieri

المصدر: European journal of medical genetics. 62(9)

مصطلحات موضوعية: Male, media_common.quotation_subject, Developmental Disabilities, Nonsense, Nonsense mutation, Genes, Recessive, Crisponi syndrome, Autoantigens, Craniofacial Abnormalities, Genetics, Medicine, Humans, Genetics (clinical), media_common, Syndrome type, business.industry, Siblings, Infant, General Medicine, Syndrome, medicine.disease, Phenotype, Multisystem disease, Family member, Codon, Nonsense, Child, Preschool, Female, business, Bohring–Opitz syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b057437a89b7b8a70d64e4a405c6f310
https://pubmed.ncbi.nlm.nih.gov/30300710

المؤلفون: Heike M. Minnich, Ivan D. Frantz, Karen J. Johnson, William E Truog, Sandra Brown, Ronnie Guillet, Myriam Peralta-Carcelen, Rosemary D. Higgins, Haresh Kirpalani, Kathryn E. Gustafson, Leslie Dawn Wilson, Gregory M Sokol, Catherine Twell Boatman, Edward F. Bell, Janet S. Morgan, W. Kenneth Poole, Amanda D. Soong, Jeanette O'Donnell Auman, Avroy A. Fanaroff, Katrina Burson, Gulgun Yalcinkaya, Monica Konstantino, Leif D. Nelin, Bradley A. Yoder, Carin Kiser, Kristin M. Basso, Marian M. Adams, Neil N. Finer, Dennis Wallace, Hali E. Weiss, Deanna Maffett, Hallam Hurt, Fred J. Biasini, Meena Garg, Laura Cole, Kathleen A. Kennedy, Julianne Hunn, Lucy Miller, Anne Holmes, Farooq Osman, Barbara Schmidt, Anna Marie Hibbs, Walid A. Salhab, Karen A. Osborne, M. Bethany Ball, Laura A. Goldston, Silvia M. Frade Eguaras, Faithe Hamer, Julie Babish Johnson, Ruth Everett-Thomas, Patti L. Pierce Tate, Maria Calejo, Michele C. Walsh, Eugenia K. Pallotto, Rachel Geller, Roger G. Faix, Melissa H. Leps, Maria Elena DeAnda, Ronald N. Goldberg, Marie G. Gantz, Sally Whitley, Nehal A. Parikh, Michelle Harwood Berkowits, Seetha Shankaran, Andrew W. Palmquist, Andrea Halbrook, Kimberlee Weaver-Lewis, Theresa M. Leach, Ira Adams-Chapman, Janice Bernhardt, Sarah Ryan, Maynard Rasmussen, Edward F. Donovan, Diana M. Vasil, Carroll Peterson, Jamie E. Newman, Bonnie E. Stephens, Karen A. Wynn, Myra H. Wyckoff, David P. Carlton, Jody Hessling, Barbara Alexander, Katherine A. Foy, Abbot R. Laptook, Michael Steffen, Sudarshan R. Jadcherla, Suzy Ventura, Raquel Halfond, Ana K. Brussa, Charles R. Rosenfeld, Ellen Waldrep, Peggy Robichaux, Donald J. Goldstein, Monika Bhola, Brenda H. Morris, Clarence Demetrio, Erica Burnell, Brenda B. Poindexter, Martha D. Carlson, Sharon L. Wright, Linda A. Madden, Michael S. Caplan, Isabell B. Purdy, Athina Pappas, Barbara Bentley, Carol Hartenberger, Patricia W. Evans, John A. Widness, Marsha Gerdes, Stephanie Wilson Archer, Kimberly Yolton, Christine G. Butler, Roy J. Heyne, Joanne Williams, Gaynelle Hensley, Carl L. Bose, Lu Ann Papile, Richard A. Polin, Brenda L. MacKinnon, JoAnn Poulsen, Anne Marie Reynolds, T. Michael O'Shea, Charles R. Bauer, Gary J. Myers, Joanne Finkle, Maegan C. Simmons, Shahnaz Duara, Arielle Rigaud, Jill Burnett, Jacky R. Walker, Lauren Zwetsch, Ellen Nylen, Margarita Jiminez, Christine A. Fortney, Angelita M. Hensman, Ellen C. Hale, Joan Merzbach, Teresa L. Gratton, Yvonne E. Vaucher, Kathy Arnell, Holly I.M. Wadkins, Sara Kryzwanski, Nancy A. Miller, Susan R. Hintz, Elaine Romano, Betty R. Vohr, Sara B. DeMauro, Donia B. Campbell, Dara M. Cucinotta, Anna Bodnar, Kristy Domnanovich, Angela Argento, Georgia E. McDavid, Kurt Schibler, Patricia L. Ashley, Margaret M. Crawford, Casey E. Krueger, Bonnie S. Siner, Sally S. Adams, Jane E. Brumbaugh, Korinne Chiu, Janice Wereszczak, Satyanarayana Lakshminrusimha, Jon E. Tyson, Carolyn Lytle, Toni Mancini, Nancy Peters, Gennie Bose, Cryshelle S. Patterson, Katharine Johnson, Barbara J. Stoll, Kristin Kirker, Gail Hounshell, Melinda S. Proud, Janet Taft, Dale L. Phelps, Keith Owen Yeates, Kathy Johnson, Dan L. Ellsbury, Martin Keszler, Leslie Rodrigues, Jennifer J. Jensen, Barbara Alksninis, Sandra Grimes, Wade Rich, Stephanie A. Wiggins, Krisa P. Van Meurs, Yvonne Loggins, M. Layne Poundstone, David Kaegi, Elizabeth T. Heyne, Sheena L. Carter, Patricia Cervone, Richard V. Rector, John M. Fiascone, Nora I. Alaniz, Helina Pierre, Waldemar A. Carlo, Kimberley A. Fisher, Elisabeth C. McGowan, Robert G. Dillard, Greg Muthig, Sarah Martin, Carolyn M. Petrie Huitema, Barbara G. Jackson, Brian G. Tang, Melinda Caskey, Vivien Phillips, Soraya Abbasi, Michael J. Acarregui, Andrea Garcia, Robert T. Burke, Aasma S. Chaudhary, Luc P. Brion, Jean G. Kohn, Kelley Yost, Melody B. Lohmeyer, Allison F. Payne, Harriet Friedman, Victoria E. Watson, William Oh, Nancy S. Newman, John Barks, Andrea H. Duncan, Pablo J. Sánchez, Mary Lenore Keszler, Deborah Evans Allred, Rosemary L. Jensen, Karie Bird, Kristin M. Zaterka-Baxter, Ann B. Cook, Alicia Guzman, Holly L. Mincey, Gail E. Besner, Kate Bridges, Sylvia Fajardo-Hiriart, Matthew M. Laughon, Cathy Grisby, Robin K. Ohls, Rebecca Bara, Karen Zanetti, Anne M. DeBattista, Tarah T. Colaizy, William F. Malcolm, Cherrie D. Welch, Judy Bernbaum, Melissa Whalen Morris, Kathleen G. Nelson, Scott A. McDonald, Emily Kushner, Abbey C. Hines, Sheila Greisman, Ashley Williams, Estelle E. Fischer, Lenora Jackson, Harris C. Jacobs, Cheri Gauldin, Alexandra Stoerger, Deanne E. Wilson-Costello, Rebecca Montman, Monica V. Collins, Mary Christensen, Charles Green, Mary Johnson, David K. Stevenson, Lijun Chen, Cecelia E. Sibley, Lisa K. Washburn, Maureen Mulligan LaRossa, Lizette E. Torres, Kathy J. Auten, Chris Henderson, U. Devaskar, Leigh Ann Smith, Janell Fuller, Diane L. Eastman, Anna E. Lis, Dianne E. Herron, Kristen C. Johnston, Anna M. Dusick, Martha G. Fuller, Anne Furey, Howard W. Kilbride, Jean R. Lowe, Elizabeth F. Bruno, Saba Siddiki, Abhik Das, Linda J. Reubens, Richard A. Ehrenkranz, Namasivayam Ambalavanan, Cynthia Spencer, Ricki F. Goldstein, Lynne C. Huffman, Teresa Chanlaw, Patricia Luzader, Carl T. D'Angio, Diane Hust, Radmila West, Beverly Foley Harris, Sarah Winter, Conra Backstrom Lacy, Shawna Baker, Shirley S. Cosby, C. Michael Cotten, Kristi L. Watterberg

المصدر: JAMA pediatrics. 172(1)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Gestational Age, Infant, Premature, Diseases, Bayley Scales of Infant Development, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Longitudinal Studies, Original Investigation, Cerebral Hemorrhage, Retrospective Studies, Ultrasonography, business.industry, Cerebral Palsy, Infant, Newborn, Gestational age, Brain, Gross Motor Function Classification System, Odds ratio, medicine.disease, Prognosis, Intraventricular hemorrhage, Bronchopulmonary dysplasia, Neurodevelopmental Disorders, Infant, Extremely Premature, Pediatrics, Perinatology and Child Health, Necrotizing enterocolitis, Female, business, 030217 neurology & neurosurgery, Ventriculomegaly, Hydrocephalus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234d262c2554e02ed759052b2dc7b879
https://pubmed.ncbi.nlm.nih.gov/31488905

المؤلفون: Weizhen Ji, Annalisa G Sega, Monica Konstantino, Saquib A. Lakhani, Robert K. Fulbright, Michele Spencer-Manzon, Yun Yen, Uzair Sarmast, Richard W. Pierce, Jianghai Wang, Leila Su, Frank Luh, Allen E. Bale, Brent A. Penque

المصدر: European Journal of Medical Genetics. 62:103574

مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial DNA, Protein Conformation, Perinatal Death, Cell Cycle Proteins, 030105 genetics & heredity, Biology, Crystallography, X-Ray, medicine.disease_cause, Mitochondrial depletion, 03 medical and health sciences, Pregnancy, Ribonucleotide Reductases, Genetics, medicine, Humans, Gene, Genetics (clinical), Mutation, Homozygote, Infant, Newborn, Infant, Metabolic acidosis, General Medicine, Cell cycle, medicine.disease, Hypotonia, 030104 developmental biology, Lactic acidosis, Female, medicine.symptom, Acidosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a172847501b7d3562730c18f10b3c51a
https://doi.org/10.1016/j.ejmg.2018.11.008