المؤلفون: Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer, Florian S. Eichler

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: TBL1XR1, Pierpont syndrome, Genetic diseases, Autism, Intellectual disability, Behavior, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4ba11c6a7859415d8de1eacad509303b

المؤلفون: Tiffany Jong, Ellen Macnamara, Cynthia Tifft

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101133- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002796; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/33fc9f28ce7647d0a05033f4e4595de7

المؤلفون: Riley Johnson, Lynne Wolfe, Ellen Macnamara, David Adams

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101176- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003224; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/687dbbe58f644d179cfba7627547e7f4

المؤلفون: Zoe Wolfenson, Precilla D'Souza, Marla Sabaii, Inna Hughes, David Adams, Adam Hartman, Ellen Macnamara

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101210- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442400356X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/be6a005170724e64a533055e0abcda00

المؤلفون: Anna Crowell, Ellen Macnamara, Camilo Toro, F. Frost, Christopher Grunseich, Athena Apfel

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101225- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003716; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/e23bd3c8cb154107b53db5ebfdf2a16b

المؤلفون: Jason R. McFadden, Christina Deanne P. Tolete, Yan Huang, Ellen Macnamara, David Sept, Galina Nesterova, William A. Gahl, Dan L. Sackett, May Christine V. Malicdan

المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100990- (2023)

مصطلحات موضوعية: Microtubules, Rare disease, Tubulinopathies, Fanconi syndrome, Translational medicine, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000368; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/07f1ec8a628249ae8a4324753ada98a7

المؤلفون: Yoliann Mojica Algarin, Ellen MacNamara, Precilla D'Souza, Cynthia Tifft

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100281- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423002819; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/7812ec1aa3c44f0a824a0031e73fe17d

المؤلفون: Bernardo Blanco-Sánchez, Aurélie Clément, Sarah J Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G Stratton, Undiagnosed Diseases Network, David M Koeller, Thomas O Metz, Philip Washbourne, Monte Westerfield

المصدر: PLoS Genetics, Vol 16, Iss 10, p e1009156 (2020)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/27535b7c4ebd48a0a9b693598f19ae60

المؤلفون: Heidi Cope, Rebecca Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily Glanton, Jennifer A. Sullivan, Ellen Macnamara, Sharyn Lincoln, Katie Golden‐Grant, Undiagnosed Diseases Network, James P. Orengo, Gary Clark, Lindsay C. Burrage, Jennifer E. Posey, Jaya Punetha, Amy Robertson, Joy Cogan, John A. Phillips III, Julian Martinez‐Agosto, Vandana Shashi

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

مصطلحات موضوعية: exome sequencing, genome sequencing, phenotyping, targeted genetic testing, variant interpretation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/28a452a9b1cd4abb9866bb89982711e0

المؤلفون: Bernardo Blanco-Sánchez, Aurélie Clément, Sara J Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G Stratton, Undiagnosed Diseases Network, David M Koeller, Thomas O Metz, Philip Washbourne, Monte Westerfield

المصدر: PLoS Genetics, Vol 16, Iss 6, p e1008841 (2020)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/013d3575604347cf9f765d5b55ed4f6d

المؤلفون: Sangwoo T, Han, Andrew C, Kim, Karolyn, Garcia, Lisa A, Schimmenti, Ellen, Macnamara, Undiagnosed Diseases, Network, William A, Gahl, May C, Malicdan, Cynthia J, Tifft

المصدر: Mol Genet Metab

مصطلحات موضوعية: Hypoxanthine Phosphoribosyltransferase, Lesch-Nyhan Syndrome, Autism Spectrum Disorder, Endocrinology, Diabetes and Metabolism, Proteins, Biochemistry, Article, Phenotype, Endocrinology, Protein Biosynthesis, Genetics, Humans, Intramolecular Transferases, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d107db2240c6dbc17e1ab7b9e09887a2
https://doi.org/10.1016/j.ymgme.2022.01.103

المؤلفون: Daniëlle G. M. Bosch, Nicole Corsten-Janssen, Colin A Ellis, Dirk Lefeber, Alfredo Brusco, Irene Bagnasco, Andrea Accogli, Ellen Macnamara, Carlo Di Bonaventura, Giovanna Zorzi, Scott Demarest, Erik A. Eklund, Noëlle Mercier, Carlo Marcelis, Rong Zhang, Ban H Edani, Camilo Toro, Ziv Gan-Or, Simone Pizzi, Kariona A. Grabińska, Nienke E. Verbeek, Karen W. Gripp, Simone Martinelli, Caterina Caputi, Luca Pannone, Marco Tartaglia, Felix Distelmaier, Louise Amlie-Wolf, Luisa Averdunk, Anne-Sophie Alaix, Renzo Guerrini, Laura Masuelli, Marwan Shinawi, Sunita Venkateswaran, Joseph Peeden, Hana Hansikova, Lucie Zdrazilova, William C. Sessa, Serena Galosi, Renske Oegema, Patricia G Wheeler, Kristin W. Barañano, Vincenzo Leuzzi, Frances Elmslie, Fadi F. Hamdan, Roberto Bei, Jean-Marc Good, Isis Atallah, Myriam Srour, Erik-Jan Kamsteeg

المصدر: Brain, 145, 1, pp. 208-223
Brain
Brain, 145(1), 208-223. Oxford University Press
Brain, vol. 145, no. 1, pp. 208-223
Brain, 145, 208-223

مصطلحات موضوعية: Myoclonus, Ataxia, Retinitis, Progressive myoclonus epilepsy, congenital disorders of glycosylation, dolichol, movement disorder, myoclonus epilepsy, neurodegenerative disorder, DHDDS, Biology, Settore MED/04, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], chemistry.chemical_compound, Neurodevelopmental disorder, Dolichol, Dolichols, Retinitis pigmentosa, medicine, Alkyl and Aryl Transferases, Child, Dolichols/metabolism, Humans, Neurodegenerative Diseases/genetics, Retinitis Pigmentosa/genetics, PROTEIN GLYCOSYLATION, MUTATION, NOGO-B RECEPTOR, CIS-PRENYLTRANSFERASE, Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neurodegenerative Diseases, LOCALIZATION, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], OLIGOSACCHARIDES, INSIGHTS, chemistry, Neuronal ceroid lipofuscinosis, Original Article, Neurology (clinical), medicine.symptom, LIQUID-CHROMATOGRAPHY, Retinitis Pigmentosa, GENETIC-DEFECTS

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012cb40531119a7d00e4415b8540c52c
https://research.rug.nl/en/publications/50de5bd9-24f7-4573-b0f2-fed69db9588d

المؤلفون: Carlos Ferreira, William A. Gahl, Kelly A. King, Ariane Soldatos, Ellen Macnamara, Tanya J. Lehky, Monique C King, Sarah Debs, Edward W. Cowen, H. Jeffrey Kim, Melissa A. Merideth, Catherine Groden, C.M. Owen, Laura H Brown, Camilo Toro

المصدر: Am J Med Genet A

مصطلحات موضوعية: Adult, 0301 basic medicine, Limb Deformities, Congenital, 030105 genetics & heredity, Bioinformatics, Compound heterozygosity, Article, Congenital Abnormalities, Serine, 03 medical and health sciences, Seizures, Exome Sequencing, Genetics, medicine, Humans, Transaminases, Genetics (clinical), Exome sequencing, Muscle contracture, Sphingolipids, Fetal Growth Retardation, Ichthyosis, business.industry, Neurodegeneration, medicine.disease, Phenotype, Sphingolipid, 030104 developmental biology, Child, Preschool, Microcephaly, Female, Psychomotor Disorders, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf7591401b4da54ffe9df3c5372a350
https://doi.org/10.1002/ajmg.a.62245

المؤلفون: Nichole Hayes, Euan A. Ashley, Laura A. Mamounas, Allyn McConkie-Rosell, Shirley Sutton, John J.E. Mulvihill, John H. Postlethwait, Richard L. Maas, Jennefer N. Kohler, Dana Kiley, Joel B. Krier, Pankaj B. Agrawal, Xue Zhong Liu, Josh F. Peterson, Jill A. Rosenfeld, Thomas May, Jennifer E. Kyle, David A. Sweetser, Neil H. Parker, Jeanette C. Papp, Manish J. Butte, Calum A. MacRae, Rong Mao, Vandana Shashi, Christopher A. Walsh, Alica M. Goldman, Gabor T. Marth, Sharyn A. Lincoln, David Goldstein, Colleen E. McCormack, Byron L. Lam, Elly Brokamp, Lynette Rives, Lee-kai Wang, Lorraine Potocki, Mary Koziura, Matthew T. Wheeler, Teri A. Manolio, Camille L. Birch, Moretti Paolo, Willa Thorson, Fariha Jamal, Cynthia M. Cooper, Yong Huang, Matt Velinder, Catherine H. Sillari, Archana Raja, Andrea L. Gropman, J. Carl Pallais, Amy K. Robertson, Dave Viskochil, William J. Craigen, Thomas C. Markello, Devin Oglesbee, Olveen Carrasquillo, Precilla D'Souza, Lorenzo D. Botto, Hugo J. Bellen, Susan L. Samson, Jim Bale, Lisa Shakachite, Catherine Groden, Kathleen Shields, Jimann Shin, Carlos Ferreira, Lynne A. Wolfe, Melissa A. Haendel, Brent L. Fogel, Joan M. Stoler, Rebecca C. Spillmann, Roy C. Levitt, Gary D. Clark, Daniel J. Wegner, Gill Bejerano, Deborah Krakow, Ashok Balasubramanyam, J. Scott Newberry, Heidi Cope, Jijun Wan, Sandra K. Loo, Laura Duncan, Elizabeth A. Worthey, Leigh Anne Tang, Mercedes E. Alejandro, Matthew Might, Cecelia P. Tamburro, Patrick Allard, Joseph Loscalzo, Bret L. Bostwick, Lisa Emrick, Sarah K. Nicholas, David R. Murdock, Jeremy D. Woods, Alana L. Grajewski, Eva H. Baker, Lindsay C. Burrage, Stephen Pak, Camilo Toro, Ashley Andrews, James P. Orengo, Shawn Levy, Lance H. Rodan, Kelly Schoch, Jyoti G. Dayal, Thomas O. Metz, Kathy Sisco, Stephanie Bivona, Paolo Moretti, Braden E. Boone, Mahshid S. Azamian, Nicole M. Walley, Esteban C. Dell'Angelica, Rosario Isasi, Jacinda B. Sampson, F. Sessions Cole, Guoyun Yu, Rena A. Godfrey, John F. Bohnsack, Elizabeth A. Burke, John H. Newman, Alden Y. Huang, Patricia A. Ward, Barbara N. Pusey, Maria T. Acosta, Alan H. Beggs, Melissa A. Walker, Shweta U. Dhar, Edwin K. Silverman, Stephan Züchner, Ian R. Lanza, Bobbie-Jo M. Webb-Robertson, Anastasia L. Wise, Angela Jones, Nicholas Stong, Irman Forghani, Matthew H. Brush, Michael F. Wangler, Jonathan A. Bernstein, Aaron R. Quinlan, David D. Draper, Pinar Bayrak-Toydemir, Diane B. Zastrow, Daniel C. Dorset, Anna Bican, David J. Eckstein, Janet S. Sinsheimer, Isaac S. Kohane, Hsiao-Tuan Chao, May Christine V. Malicdan, C. Christopher Lau, Mariska Davids, Eva Morava-Kozicz, Beth A. Martin, Daryl A. Scott, Prashant Sharma, Elizabeth L. Fieg, Lauren C. Briere, Shinya Yamamoto, Devon Bonner, Ralph L. Sacco, Amanda J. Yoon, John Yang, Katrina M. Waters, Carlos A. Bacino, Pengfei Liu, Brendan Lee, Lisa Bastarache, Emily G. Kelley, Tiphanie P. Vogel, Jason Hom, Marta M. Majcherska, Robb Rowley, Liliana Fernandez, Carsten Bonnenmann, Stanley F. Nelson, Colleen E. Wahl, Guney Bademci, Justin Alvey, Naghmeh Dorrani, Hane Lee, Lefkothea P. Karaviti, Monte Westerfield, John A. Phillips, Laurel A. Cobban, Chunli Zhao, Nicola Longo, Donna M. Krasnewich, Ta Chen Peter Chang, Tiina K. Urv, Christine M. Eng, Chloe M. Reuter, Ingrid A. Holm, Jozef Lazar, Emilie D. Douine, Susan A. Korrick, Alexa T. McCray, Richard A. Lewis, Ronit Marom, Kimberly LeBlanc, Cynthia J. Tifft, Cecilia Esteves, David R. Adams, Donna M. Brown, Avi Nath, Rebecca Signer, Martin G. Martin, Julian A. Martinez-Agosto, Jacob L. McCauley, Alyssa A. Tran, Jennifer A. Sullivan, William A. Gahl, Brendan C. Lanpher, Marie Morimoto, Donna Novacic, Jean-Philippe F. Gourdine, Paul G. Fisher, Fred F. Telischi, Shruti Marwaha, Heather A. Colley, Queenie K.-G. Tan, Seema R. Lalani, Deborah Barbouth, Jennifer E. Posey, Yong-hui Jiang, Jennifer Wambach, Mario Saporta, Jean M. Johnston, Dustin Baldridge, Timothy Schedl, Pace Laura, Ellen Macnamara, Joy D. Cogan, Kevin S. Smith, David M. Koeller, Genecee Renteria, Maura R.Z. Ruzhnikov, Christina G.S. Palmer, Valerie Maduro, Frances A. High, Gerard T. Berry, Holly K. Tabor, Terra R. Coakley, Surendra Dasari, Neil A. Hanchard, David P. Bick, Laure Fresard, Rizwan Hamid, Lilianna Solnica-Krezel, Gabriel F. Batzli, Judy Schaechter, John C. Carey, Tyra Estwick, Mustafa Tekin

المصدر: Genetics in Medicine. 23:1830-1832

مصطلحات موضوعية: World Wide Web, Electronic health record, Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0db0b2215cbd75dbbce7e18a850faf00
https://doi.org/10.1038/s41436-021-01179-w

المؤلفون: Frank Rutsch, Mary E. Hackbarth, Mary Scott Roberts, Rachel I Gafni, Margaret Whelpley, Michael A. Levine, Kristen S. Pan, William A. Gahl, Ellen Macnamara, Christina Jacobsen, Ingrid A. Holm, Carlos Ferreira, Sisi Wang, Esra Dikoglu, Timothy E Corden, M Zulf Mughal, Iris R Hartley, Douglas R. Rosing, Joy Bryant, Emily Y. Chew, Kerstin Müller, Marcus Y. Chen, Shira G. Ziegler

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, ENPP1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets type 2, Hearing loss, ABCC6, Rickets, 030105 genetics & heredity, Article, Generalized arterial calcification, Generalized Arterial Calcification of Infancy, 03 medical and health sciences, medicine, Pseudoxanthoma Elasticum, Genetics (clinical), biology, business.industry, Incidence (epidemiology), Pseudoxanthoma elasticum, medicine.disease, Hypophosphatemic Rickets, 030104 developmental biology, biology.protein, ABCC6 Deficiency, medicine.symptom, business, Calcification

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5524c187ee5b3c5c74f0fa73ac85f6
https://doi.org/10.1038/s41436-020-00983-0

المؤلفون: Katherine Wesseling Perry, Archana Raja, Emilie D. Douine, Xue Zhong Liu, Brent L. Fogel, Stan F. Nelson, Kenneth R. Maravilla, Eva H. Baker, Dave Viskochil, Kerstin Kutsche, Jordan H. Whitlock, Susan L. Samson, Christine M. Eng, Chloe M. Reuter, Suman Jayadev, David R. Adams, Sihoun Hahn, Rebecca C. Spillmann, Margaret Adam, Heather C Mefford, John C. Carey, Ehsan Ghayoor Karimiani, Donna M. Krasnewich, David Goldstein, Susan A. Korrick, Guoyun Yu, Tomas Honzik, Henry Houlden, Andrea L. Gropman, David A. Sweetser, Anna Bican, Carlos A. Bacino, Liliana Fernandez, Gabrielle Brown, Justin Alvey, Hane Lee, Emanuele G. Coci, Hongzheng Dai, Mario Saporta, Laurel A. Cobban, John F. Bohnsack, Stephanie Fox, Heidi Cope, Tyra Estwick, Lorraine Potocki, Nichole Hayes, Elizabeth A. Burke, Rizwan Hamid, Aaron R. Quinlan, Kelly Hassey, Lindsay C. Burrage, Jane Juusola, Adeline Vanderver, Malik Alawi, Teri A. Manolio, Maja Hempel, Esther M. Maier, Jennifer Kennedy, Bruce D. Gelb, Martha Horike-Pyne, Amarilis Sanchez-Valle, Euan A. Ashley, Surendra Dasari, Elizabeth Blue, Eva Morava-Kozicz, Natalie Rosenwasser, Alan H. Beggs, Bryn D. Webb, Isaac S. Kohane, Kelly Schoch, C. Christopher Lau, Nicole M. Walley, Laura M. Amendola, Genecee Renteria, Catherine H. Sillari, Jonathan A. Bernstein, Pinar Bayrak-Toydemir, R. Frank Kooy, Mariko Nakano-Okuno, Manuela Siekmeyer, Marije E. C. Meuwissen, Stephanie Bivona, Mark Wener, Precilla D'Souza, Olveen Carrasquillo, Paolo Moretti, Diane B. Zastrow, David J. Eckstein, Janet S. Sinsheimer, Kathy Sisco, Holly K. Tabor, William E. Byrd, Esteban C. Dell'Angelica, Rosario Isasi, Jacinda B. Sampson, Carsten Bonnenmann, J. Lawrence Merritt, Joan M. Stoler, Richard L. Maas, Paul G. Fisher, Jeanette C. Papp, Kimberly LeBlanc, Lilianna Solnica-Krezel, Mustafa Tekin, Mathias Woidy, Andrew B. Crouse, Katleen Ballon, David Murphy, Matthew T. Wheeler, Joseph Loscalzo, Ellen Macnamara, Cecelia P. Tamburro, Lefkothea P. Karaviti, Chunli Zhao, Ingrid A. Holm, Pankaj B. Agrawal, Alana L. Grajewski, Stephen C. Pak, Ian R. Lanza, Mohammad Doosti, Jennifer E. Posey, Rebecca Signer, Katie Golden-Grant, Christopher A. Walsh, Alica M. Goldman, Jyoti G. Dayal, Queenie K.-G. Tan, Martin G. Martin, Joy D. Cogan, Kevin S. Smith, Deborah A. Nickerson, Elisabeth McGee, Laure Fresard, Rena A. Godfrey, Sharyn A. Lincoln, Kathleen E. Sullivan, Mariska Davids, Melissa A. Walker, Prashant Sharma, Maria Iascone, Neil H. Parker, Carlos Ferreira, Elizabeth L. Fieg, Edwin K. Silverman, Michael L. Cunningham, Pengfei Liu, Edward M. Behrens, Sandra K. Loo, David R. Murdock, F. Sessions Cole, C. Ron Scott, Dan Doherty, Elly Brokamp, John H. Newman, Alden Y. Huang, Laura A. Pace, Avi Nath, Jimmy Bennet, Georg Christoph Korenke, Alyssa A. Tran, Gabriel F. Batzli, Jimann Shin, Matthew A. Deardorff, Naghmeh Dorrani, Diane Beysen, Irma Gutierrez, Stanislav Kmoch, Majid Alfadhel, Fred F. Telischi, Jennifer A. Sullivan, William A. Gahl, María Palomares-Bralo, Gerard T. Berry, Colleen E. McCormack, Lance H. Rodan, Reza Maroofian, Lenka Nosková, Judy Schaechter, Lynne A. Wolfe, Deborah Krakow, Daryl A. Scott, Tara Wenger, Jason Hom, Dustin Baldridge, Lynette Rives, Lee-kai Wang, Dawn L. Earl, Ralph L. Sacco, Fernando Santos-Simarro, Irman Forghani, Fuki M. Hisama, Terra R. Coakley, Hsiao-Tuan Chao, Jeremy D. Woods, Emily G. Kelley, Jean M. Johnston, Neil A. Hanchard, Amy K. Robertson, Matt Velinder, Byron L. Lam, Wendy H. Raskind, William J. Craigen, Stephan Züchner, Guney Bademci, Julian A. Martinez-Agosto, Mary Koziura, Beth A. Martin, Angela Sun, John A. Phillips, Seema R. Lalani, Daniela Buhas, Emily Solem, Gary D. Clark, Gill Bejerano, Ingo Kurth, Deborah Barbouth, Tiina K. Urv, Fanny Kortüm, Ian A. Glass, Ta Chen Peter Chang, Yong Huang, Roy C. Levitt, Paola Francesca Ajmone, Brenna Boyd, René Santer, Tim Schedl, David D. Draper, Ghayda M. Mirzaa, Aroa Rodríguez Alonso, Stephanie Wallace, Colleen E. Wahl, Calum A. MacRae, Gail P. Jarvik, Jacob L. McCauley, Jill A. Rosenfeld, Ronit Marom, Monte Westerfield, Matthew Might, Poupak Javaher-Haghighi, Brendan C. Lanpher, Devon Bonner, Cynthia J. Tifft, Cecilia Esteves, May Christine V. Malicdan, Jim Bale, Fariha Jamal, Nicola Longo, Christina G.S. Palmer, Lisa Emrick, Peter H. Byers, Vandana Shashi, Tiphanie P. Vogel, Richard A. Lewis, Jijun Wan, Barbara N. Pusey, Maria T. Acosta, Jaak Jaeken, Allyn McConkie-Rosell, Shirley Sutton, John Yang, Lorenzo D. Botto, Hilde Peeters, Rong Mao, Catherine Groden, Brendan Lee, Marta M. Majcherska, Rami Abou Jamra, Ashok Balasubramanyam, Joel B. Krier, Majid Mojarrad, Maria Francesca Bedeschi, Mahshid S. Azamian, Shruti Marwaha, Heather A. Colley, Katrina M. Dipple, Sirisak Chanprasert, Alexa T. McCray, Nicholas Stong, Anne V. Hing, Laura A. Mamounas, Edward C. Smith, Lauren C. Briere, John J.E. Mulvihill, Virginia P. Sybert, Maura R.Z. Ruzhnikov, Valerie Maduro, Frances A. High, Manish J. Butte, Willa Thorson, J. Carl Pallais, Jennefer N. Kohler, Dana Kiley, Raphael Bernier, Christina Lam, Michael J. Bamshad, Patricia A. Ward, Michael F. Wangler, Anita E. Beck, Shinya Yamamoto, Beverly Berg-Rood, Robb Rowley, Gabor T. Marth, Cynthia M. Cooper, Jeffrey G. Jarvik, Thomas C. Markello, Saskia Biskup, Devin Oglesbee, Laura Duncan, Elijah Kravets, Daniel J. Wegner, Mercedes E. Alejandro, Sarah K. Nicholas, Jennifer A. Wambach, Marni J. Falk, Brianna M. Tucker, Marie Morimoto, Corina Heller, Donna Novacic, Camilo Toro, Ashley Andrews, James P. Orengo, Shweta U. Dhar, Pauline E. Schneeberger

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Death Domain Receptor Signaling Adaptor Proteins, Programmed cell death, Developmental Disabilities, Biology, 03 medical and health sciences, 0302 clinical medicine, Epidermal growth factor, medicine, Guanine Nucleotide Exchange Factors, Humans, Death domain, Kinase, Original Articles, Phenotype, Hypotonia, Protein Transport, 030104 developmental biology, Mutation, Cancer research, Human medicine, Neurology (clinical), Nervous System Diseases, Signal transduction, medicine.symptom, 030217 neurology & neurosurgery, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::469dd7950f25b051fd734c3b254fdd78
https://doi.org/10.1093/brain/awaa204

المؤلفون: Precilla D'Souza, Cynthia J. Tifft, Ellen Macnamara

المصدر: Translational Science of Rare Diseases

مصطلحات موضوعية: Computer science, Process (engineering), Genomic sequencing, Undiagnosed, rare disease, RNA sequencing, General Medicine, Disease, Computational biology, Highly selective, DNA sequencing, model organisms, genome sequencing, Rare disease, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20e813bfdfe1fdf3d995144b2a4e39cc
http://europepmc.org/articles/PMC7250153

المؤلفون: Serena Galosi, Ban H Edani, Simone Martinelli, Hana Hansikova, Erik A Eklund, Caterina Caputi, Laura Masuelli, Nicole Corsten-Janssen, Myriam Srour, Renske Oegema, Daniëlle G M Bosch, Colin A Ellis, Louise Amlie-Wolf, Andrea Accogli, Isis Atallah, Luisa Averdunk, Kristin W Barañano, Roberto Bei, Irene Bagnasco, Alfredo Brusco, Scott Demarest, Anne-Sophie Alaix, Carlo Di Bonaventura, Felix Distelmaier, Frances Elmslie, Ziv Gan-Or, Jean-Marc Good, Karen Gripp, Erik-Jan Kamsteeg, Ellen Macnamara, Carlo Marcelis, Noëlle Mercier, Joseph Peeden, Simone Pizzi, Luca Pannone, Marwan Shinawi, Camilo Toro, Nienke E Verbeek, Sunita Venkateswaran, Patricia G Wheeler, Lucie Zdrazilova, Rong Zhang, Giovanna Zorzi, Renzo Guerrini, William C Sessa, Dirk J Lefeber, Marco Tartaglia, Fadi F Hamdan, Kariona A Grabińska, Vincenzo Leuzzi

المساهمون: Galosi, Serena, H Edani, Ban, Martinelli, Simone, Hansikova, Hana, A Eklund, Erik, Caputi, Caterina, Masuelli, Laura, Corsten-Janssen, Nicole, Srour, Myriam, Oegema, Renske, M Bosch, Daniëlle G, A Ellis, Colin, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isi, Averdunk, Luisa, W Barañano, Kristin, Bei, Roberto, Bagnasco, Irene, Brusco, Alfredo, Demarest, Scott, Alaix, Anne-Sophie, DI BONAVENTURA, Carlo, Distelmaier, Felix, Elmslie, France, Gan-Or, Ziv, Good, Jean-Marc, Gripp, Karen, Kamsteeg, Erik-Jan, Macnamara, Ellen, Marcelis, Carlo, Mercier, Noëlle, Peeden, Joseph, Pizzi, Simone, Pannone, Luca, Shinawi, Marwan, Toro, Camilo, E Verbeek, Nienke, Venkateswaran, Sunita, G Wheeler, Patricia, Zdrazilova, Lucie, Zhang, Rong, Zorzi, Giovanna, Guerrini, Renzo, C Sessa, William, J Lefeber, Dirk, Tartaglia, Marco, F Hamdan, Fadi, A Grabińska, Kariona, Leuzzi, Vincenzo

مصطلحات موضوعية: myoclonus epilepsy, movement disorder, neurodegenerative disorder, congenital disorders of glycosylation, dolichol

Relation: info:eu-repo/semantics/altIdentifier/pmid/34382076; info:eu-repo/semantics/altIdentifier/wos/WOS:000767664300001; journal:BRAIN; https://hdl.handle.net/11573/1621666

الاتاحة: https://hdl.handle.net/11573/1621666

المؤلفون: James Holt, Prashant Sharma, Precilla D'Souza, Cynthia J. Tifft, Paul R. Lee, Erin Torti, Stephen R. Braddock, Ellen Macnamara, Alanna E. Koehler, Gilbert Vezina, Tyra Estwick, Harper B Fauni, May Christine V. Malicdan

المصدر: Human Mutation. 40:532-538

مصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, Hearing loss, 030305 genetics & heredity, Chromosome, Biology, medicine.disease, Cystic fibrosis, Phenotype, 03 medical and health sciences, Uniparental Isodisomy, Genetics, medicine, Sensorineural hearing loss, Global developmental delay, medicine.symptom, Genetics (clinical), 030304 developmental biology, Epithelial polarity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::53f0299c93c4bb39b882be790a9976ca
https://doi.org/10.1002/humu.23722

المؤلفون: Mark P. Gorman, Alice Leclercq-Blondel, Shino Shimada, Tim Schedl, Stephen C. Pak, Sonia El Mouridi, Thomas Boulin, Gary A. Silverman, Anika Lindsey, May Christine V. Malicdan, Marie Gendrel, Omar Itani, Ariane Soldatos, Darian Turner, Ellen Macnamara, Dustin Baldridge, Jennifer L. Murphy

المساهمون: Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Institut de biologie de l'ENS Paris (IBENS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), National Institutes of Health [Bethesda] (NIH), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Undiagnosed Diseases Network, Boulin, Thomas, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie de l'ENS Paris (UMR 8197/1024) (IBENS)

المصدر: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2021, ⟨10.1016/j.ymgme.2021.07.013⟩
Molecular Genetics and Metabolism, 2021, ⟨10.1016/j.ymgme.2021.07.013⟩

مصطلحات موضوعية: Candidate gene, Potassium Channels, Endocrinology, Diabetes and Metabolism, Nerve Tissue Proteins, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Cell fate determination, Biochemistry, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Endocrinology, Genetics, medicine, [SDV.BC.BC] Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Missense mutation, Animals, Humans, Generalized epilepsy, Pathology, Molecular, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Child, Molecular Biology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Gene Editing, 0303 health sciences, biology, Genetic Variation, medicine.disease, biology.organism_classification, Null allele, Neurodevelopmental Disorders, Female, Domain of unknown function, Carrier Proteins, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e1cf147c9956ae858eb4251728523cb
https://hal.archives-ouvertes.fr/hal-03357611