المؤلفون: Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert, Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason

المساهمون: National Human Genome Research Institute, Thrasher Research Fund, Marguerite-Marie Delacroix Foundation, Ontario Genomics Institute, Ghent University, FWO

المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 509-528 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.01.013
https://api.elsevier.com/content/article/PII:S0002929724000326?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724000326?httpAccept=text/plain

المؤلفون: Romero, Sally AD, Su, H Irene, Satagopan, Jaya, Li, Q Susan, Seluzicki, Christina M, Dries, Annika, DeMichele, Angela M, Mao, Jun J

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Estrogen, Human Genome, Prevention, Genetics, Clinical Research, Breast Cancer, Women's Health, Cancer, Aging, Genetic Testing, 6.1 Pharmaceuticals, Adult, Aged, Aged, 80 and over, Aromatase Inhibitors, Arthralgia, Breast Neoplasms, Cross-Sectional Studies, Estradiol Dehydrogenases, Female, Genetic Markers, Genetic Predisposition to Disease, Humans, Logistic Models, Middle Aged, Polymorphism, Single Nucleotide, Postmenopause, Risk Factors, Breast neoplasm, Aromatase inhibitor, Postmenopausal, Risk factors, Public Health and Health Services, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5296c900
https://escholarship.org/content/qt5296c900/qt5296c900.pdf

المؤلفون: Shashi, Vandana, Geist, Janelle, Lee, Youngha, Yoo, Yongjin, Shin, Unbeom, Schoch, Kelly, Sullivan, Jennifer, Stong, Nicholas, Smith, Edward, Jasien, Joan, Kranz, Peter, Lee, Yoonsung, Shin, Yong Beom, Wright, Nathan T, Choi, Murim, Kontrogianni‐Konstantopoulos, Aikaterini, Acosta, Maria T, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F, Beggs, Alan H, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Friedman, Noah D, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean‐Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Frances, Holm, Ingrid A

المصدر: Human Mutation. 40(8)

مصطلحات موضوعية: Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Adult, Arthrogryposis, Carrier Proteins, Child, Fathers, Female, Humans, Infant, Male, Models, Molecular, Mutation, Neuromuscular Diseases, Pedigree, Phenotype, Protein Conformation, Whole Genome Sequencing, arthrogryposis, hypotonia, MYBPC1, myopathy, myosin binding protein-C, tremor, Undiagnosed Diseases Network, Genetics, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/44k6m8qw

المؤلفون: Kumar, Akash, Zastrow, Diane B, Kravets, Elijah J, Beleford, Daniah, Ruzhnikov, Maura RZ, Grove, Megan E, Dries, Annika M, Kohler, Jennefer N, Waggott, Daryl M, Yang, Yaping, Huang, Yong, Network, Undiagnosed Diseases, Mackenzie, Katherine M, Eng, Christine M, Fisher, Paul G, Ashley, Euan A, Teng, Joyce M, Stevenson, David A, Shieh, Joseph T, Wheeler, Matthew T, Bernstein, Jonathan A

المصدر: American Journal of Medical Genetics Part A. 179(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurosciences, Rare Diseases, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, Aetiology, Alleles, Child, Diagnosis, Differential, GTP-Binding Protein alpha Subunits, GTP-Binding Protein alpha Subunits, Gq-G11, Genotype, Humans, Infant, Magnetic Resonance Angiography, Magnetic Resonance Imaging, Male, Mutation, Neurocutaneous Syndromes, Phenotype, Skin, Exome Sequencing, GNA11, GNAQ, management, phacomatosis cesioflammea, phacomatosis cesiomarmorata, phacomatosis pigmentovascularis, Undiagnosed Diseases Network, GNA11, GNAQ, Genetics, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7ww536w6

المؤلفون: Newman, John H, Shaver, Aaron, Sheehan, Jonathan H, Mallal, Simon, Stone, John H, Pillai, Shiv, Bastarache, Lisa, Riebau, Derek, Allard‐Chamard, Hugues, Stone, William M, Perugino, Cory, Pilkinton, Mark, Smith, Scott A, McDonnell, Wyatt J, Capra, John A, Meiler, Jens, Cogan, Joy, Xing, Kelly, Mahajan, Vinay S, Mattoo, Hamid, Hamid, Rizwan, Phillips, John A, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell‐Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean‐Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hanchard, Neil A, Handley, Lori H, Herzog, Matthew R, High, Francis, Holm, Ingrid A, Hom, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M

المصدر: Molecular Genetics & Genomic Medicine. 7(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adolescent, CD4-Positive T-Lymphocytes, Genetic Variation, Humans, Immunoglobulin G, Immunoglobulin G4-Related Disease, Male, Middle Aged, T-Lymphocytes, Cytotoxic, cytotoxic lymphocytes, heritable, IgG4-RD, Undiagnosed Disease Network, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5m28j4dw
https://escholarship.org/content/qt5m28j4dw/qt5m28j4dw.pdf

المؤلفون: Burrage, Lindsay C, Reynolds, John J, Baratang, Nissan Vida, Phillips, Jennifer B, Wegner, Jeremy, McFarquhar, Ashley, Higgs, Martin R, Christiansen, Audrey E, Lanza, Denise G, Seavitt, John R, Jain, Mahim, Li, Xiaohui, Parry, David A, Raman, Vandana, Chitayat, David, Chinn, Ivan K, Bertuch, Alison A, Karaviti, Lefkothea, Schlesinger, Alan E, Earl, Dawn, Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Jhangiani, Shalini N, Eng, Christine M, Gibbs, Richard A, Bi, Weimin, Emrick, Lisa, Rosenfeld, Jill A, Postlethwait, John, Westerfield, Monte, Dickinson, Mary E, Beaudet, Arthur L, Ranza, Emmanuelle, Huber, Celine, Cormier-Daire, Valérie, Shen, Wei, Mao, Rong, Heaney, Jason D, Orange, Jordan S, Genomics, University of Washington Center for Mendelian, Network, Undiagnosed Diseases, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Enns, Gregory M, Eskin, Ascia, Esteves, Cecilia

المصدر: American Journal of Human Genetics. 104(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Clinical Research, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Animals, Cells, Cultured, Child, Child, Preschool, Chromosomal Instability, DNA Damage, Female, Fibroblasts, Genetic Association Studies, Genetic Variation, Humans, Mice, Mice, Knockout, Musculoskeletal Abnormalities, NF-kappa B, Osteochondrodysplasias, Exome Sequencing, Young Adult, Zebrafish, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, DNA repair, DNA replication, SPONASTRIME dysplasia, TONSL, exome sequencing, skeletal dysplasia, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/28k4m2m4

المؤلفون: Jordan, Valerie K, Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J, Balci, Tugce B, Carter, Melissa T, Bernat, John A, Moccia, Amanda N, Srivastava, Anshika, Martin, Donna M, Bielas, Stephanie L, Pappas, John, Svoboda, Melissa D, Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M, Scaglia, Fernando, Network, Undiagnosed Diseases, Kohler, Jennefer N, Bernstein, Jonathan A, Dries, Annika M, Rosenfeld, Jill A, DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H, Bi, Weimin, Scott, Daryl A

المصدر: Human Mutation. 39(5)

مصطلحات موضوعية: Congenital Structural Anomalies, Genetics, Genetic Testing, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Carrier Proteins, Child, Preschool, Fatal Outcome, Female, Genetic Association Studies, Humans, Infant, Male, Mutation, Young Adult, 1p36 deletion syndrome, CHARGE syndrome, CHD7, genotype-phenotype correlations, NEDBEH, RERE, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/57z6f57h

المؤلفون: Oláhová, Monika, Yoon, Wan, Thompson, Kyle, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean, Kyle, Jennifer, Grove, Megan, Fisk, Dianna, Kohler, Jennefer, Holmes, Matthew, Dries, Annika, Huang, Yong, Zhao, Chunli, Contrepois, Kévin, Zappala, Zachary, Frésard, Laure, Waggott, Daryl, Zink, Erika, Kim, Young-Mo, Heyman, Heino, Stratton, Kelly, Webb-Robertson, Bobbie-Jo, Snyder, Michael, Merker, Jason, Montgomery, Stephen, Fisher, Paul, Feichtinger, René, Mayr, Johannes, Hall, Julie, Barbosa, Ines, Simpson, Michael, Deshpande, Charu, Waters, Katrina, Koeller, David, Metz, Thomas, Morris, Andrew, Schelley, Susan, Cowan, Tina, Friederich, Marisa, McFarland, Robert, Van Hove, Johan, Enns, Gregory, Yamamoto, Shinya, Ashley, Euan, Wangler, Michael, Taylor, Robert, Bellen, Hugo, Bernstein, Jonathan, Wheeler, Matthew

المصدر: American Journal of Human Genetics. 102(3)

مصطلحات موضوعية: 3-methylglutaric aciduria, ATP synthase, complex V, exome sequencing, fibroblast, hyperammonemia, lactic acidosis, mitochondrial disease, model organism, oxidative phosphorylation, Alleles, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Loss of Function Mutation, Male, Metabolic Diseases, Mitochondria, Mitochondrial Proton-Translocating ATPases, Mutation, Protein Subunits

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6gq4863p
https://escholarship.org/content/qt6gq4863p/qt6gq4863p.pdf

المؤلفون: Deng, Gary, Bao, Ting, Ryan, Elizabeth L., Benusis, Lara, Hogan, Pasha, Li, Qing S., Dries, Annika, Konner, Jason, Ahles, Tim A., Mao, Jun J.

المساهمون: National Cancer Institute, rockefeller foundation, memorial sloan-kettering cancer center

المصدر: Integrative Cancer Therapies ; volume 21, page 153473542210892 ; ISSN 1534-7354 1552-695X

الاتاحة: http://dx.doi.org/10.1177/15347354221089221
http://journals.sagepub.com/doi/pdf/10.1177/15347354221089221
http://journals.sagepub.com/doi/full-xml/10.1177/15347354221089221

المؤلفون: Dries, Annika M, Kirillova, Anna, Reuter, Chloe M, Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A, Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D H, Nussbaum, Robert L, Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M, Elliott, Perry M, Syrris, Petros, van Tintelen, J Peter, James, Cynthia A, Haggerty, Christopher M, Parikh, Victoria N

المساهمون: Dries, Annika M, Kirillova, Anna, Reuter, Chloe M, Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandro, Medeiros-Domingo, Argelia, Kelly, Melissa A, Baras, Ari, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D H, Nussbaum, Robert L, Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M, Elliott, Perry M, Syrris, Petro, van Tintelen, J Peter, James, Cynthia A, Haggerty, Christopher M, Parikh, Victoria N

مصطلحات موضوعية: Genetic Testing, Human, Phenotype, Arrhythmogenic Right Ventricular Dysplasia, Cardiomyopathie, Plakophilins

Relation: info:eu-repo/semantics/altIdentifier/pmid/34120153; info:eu-repo/semantics/altIdentifier/wos/WOS:000660810100001; volume:23; issue:10; firstpage:1961; lastpage:1968; numberofpages:8; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11368/3026288; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108229358; https://www.sciencedirect.com/science/article/pii/S1098360021051431?via=ihub; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486657/

الاتاحة: http://hdl.handle.net/11368/3026288
https://doi.org/10.1038/s41436-021-01233-7
https://www.sciencedirect.com/science/article/pii/S1098360021051431?via=ihub
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486657/

المؤلفون: Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D.H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., Parikh, Victoria N.

المصدر: Regeneron Genetics Center , Dries , A M , Kirillova , A , Reuter , C M , Garcia , J , Zouk , H , Hawley , M , Murray , B , Tichnell , C , Pilichou , K , Protonotarios , A , Medeiros-Domingo , A , Kelly , M A , Baras , A , Ingles , J , Semsarian , C , Bauce , B , Celeghin , R , Basso , C , Jongbloed , J D H , Nussbaum , R L , Funke , B , Cerrone , M , Mestroni ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/fb205329-9e34-4677-9e16-d5e035a700b3
https://research.rug.nl/en/publications/fb205329-9e34-4677-9e16-d5e035a700b3
https://doi.org/10.1038/s41436-021-01298-4
https://pure.rug.nl/ws/files/203022557/1_s2.0_S1098360021051510_main.pdf

المؤلفون: Geng, Linda N, Kohler, Jennefer N, Levonian, Peter, Members of the Undiagnosed Diseases Network, Bernstein, Jonathan A, Ford, James M, Ahuja, Neera, Witteles, Ronald, Hom, Jason, Wheeler, Matthew, Acosta, Maria T, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F, Beggs, Alan H, Bellen, Hugo J, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Friedman, Noah D, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean-Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Frances, Holm, Ingrid A, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M, Jones, Angela L, Karaviti, Lefkothea, Kelley, Emily G, Koeller, David M, Kohane, Isaac S, Krakow, Deborah, Krasnewich, Donna M, Korrick, Susan, Koziura, Mary, Krier, Joel B, Kyle, Jennifer E, Lalani, Seema R, Lam, Byron, Lanpher, Brendan C, Lanza, Ian R, Christopher Lau, C, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H, Lee, Hane, Levitt, Roy, Levy, Shawn E, Lewis, Richard A, Lincoln, Sharyn A, Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Majcherska, Marta M, Moretti, Paolo M, Morimoto, Marie, Mulvihill, John J, Murdock, David R, Nath, Avi, Nelson, Stan F, Scott Newberry, J, Newman, John H, Nicholas, Sarah K, Novacic, Donna, Oglesbee, Devin, Orengo, James P, Pak, Stephen, Carl Pallais, J, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Pena, Loren DM, Phillips, John A, Posey, Jennifer E, Postlethwait, John H, Potocki, Lorraine, Pusey, Barbara N, Renteria, Genecee, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenfeld, Jill A, Rowley, Robb K, Sacco, Ralph, Sampson, Jacinda B, Samson, Susan L, Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H, Silverman, Edwin K, Sinsheimer, Janet S, Smith, Kevin S, Solnica-Krezel, Lilianna, Spillmann, Rebecca C, Stoler, Joan M, Stong, Nicholas, Sullivan, Jennifer A, Sweetser, David A, Tamburro, Cecelia P, Tan, Queenie K-G, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Urv, Tiina K, Vogel, Tiphanie P, Waggott, Daryl M, Wahl, Colleen E, Walley, Nicole M, Walsh, Chris A, Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F, Ward, Patricia A, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Wolfe, Lynne A, Woods, Jeremy D, Worthey, Elizabeth A, Yamamoto, Shinya, Yang, John, Yoon, Amanda J, Yu, Guoyun, Zastrow, Diane B, Zhao, Chunli, Zuchner, Stephan

مصطلحات موضوعية: Letter

وصف الملف: text/html

Relation: http://pmj.bmj.com/cgi/content/short/95/1128/569; http://dx.doi.org/10.1136/postgradmedj-2018-136355

الاتاحة: http://pmj.bmj.com/cgi/content/short/95/1128/569
https://doi.org/10.1136/postgradmedj-2018-136355

المؤلفون: Hom, Jason, Marwaha, Shruti, Postolova, Anna, Kittle, Jessie, Vasquez, Rosaline, Davidson, Jean, Kohler, Jennefer, Dries, Annika, Fernandez-Betancourt, Liliana, Majcherska, Marta, Dearlove, Joanna, Raghavan, Shyam, Vogel, Hannes, Bernstein, Jonathan A., Fisher, Paul, Ashley, Euan, Sampson, Jacinda, Wheeler, Matthew

المصدر: Journal of General Internal Medicine ; volume 34, issue 6, page 1058-1062 ; ISSN 0884-8734 1525-1497

الاتاحة: http://dx.doi.org/10.1007/s11606-019-04931-w
http://link.springer.com/content/pdf/10.1007/s11606-019-04931-w.pdf
http://link.springer.com/article/10.1007/s11606-019-04931-w/fulltext.html

المؤلفون: Tremblay-Gravel, Maxime, Ichimura, Kenzo, Picard, Kermshlise, Kawano, Yumeko, Dries, Annika M., Haddad, Francois, Lakdawala, Neal K., Wheeler, Matthew T., Parikh, Victoria N.

المصدر: Circulation: Genomic and Precision Medicine ; volume 16, issue 1 ; ISSN 2574-8300

الاتاحة: http://dx.doi.org/10.1161/circgen.121.003480
https://www.ahajournals.org/doi/full/10.1161/CIRCGEN.121.003480

المؤلفون: Wang, Julia, Al-Ouran, Rami, Hu, Yanhui, Kim, Seon-Young, Wan, Ying-Wooi, Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Comjean, Aram, Mohr, Stephanie E., Perrimon, Norbert, Liu, Zhandong, Bellen, Hugo J., Adams, Christopher J., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Draper, David D., Dries, Annika M., Eckstein, David J.

المساهمون: NINDS, NIH/ORIP, Baylor College of Medicine Medical Scientist Training Program, Howard Hughes Medical Institute, NIH, NSF, CPRIT, Houston Endowment, Huffington Foundation, Belfer Foundation, T T Chao Family Foundation, NIH NIGMS, Dana Farber/Harvard Cancer Center, Pediatric Neurology Basic Neuroscience Research Track, Texas Children’s Hospital, Alzheimer’s Association, Simons Foundation

المصدر: The American Journal of Human Genetics ; volume 100, issue 6, page 843-853 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2017.04.010
https://api.elsevier.com/content/article/PII:S0002929717301544?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929717301544?httpAccept=text/plain

المؤلفون: Fresard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, G. Martin, Martinez-Agosto, Julian A., May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteria, Genecee, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tan, Queenie K. -G., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zhao, Chunli, Zheng, Allison, Boycott, Kym, MacKenzie, Alex, Majewski, Jacek, Brudno, Michael, Bulman, Dennis, Dyment, David

المصدر: Nature Medicine. 25(6):911-919

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-387924

المؤلفون: Reuter, Chloe M., Dries, Annika M., Parikh, Victoria N.

المساهمون: Boring Trust Research Award, John Taylor Babbitt Foundation, Sarnoff Cardiovascular Research Foundation, National Heart, Lung, and Blood Institute

المصدر: Current Cardiovascular Risk Reports ; volume 15, issue 5 ; ISSN 1932-9520 1932-9563

الاتاحة: http://dx.doi.org/10.1007/s12170-021-00669-5
https://link.springer.com/content/pdf/10.1007/s12170-021-00669-5.pdf
https://link.springer.com/article/10.1007/s12170-021-00669-5/fulltext.html

المؤلفون: Mirzaa, Ghayda, Chong, Jessica, Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly, Sajan, Samin, Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, Andre, Thiel, Christian, Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura, Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen, Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle, Akman, Cigdem, Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen, Mattioli, Francesca, Guyader, Gwenaël Le, Gérard, Bénédicte, Mathieu-Dramard, Michele, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin, Nickerson, Deborah, van Binsbergen, Ellen, Enns, Gregory, Dries, Annika, Rowe, Leah, Tsai, Anne, Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance, Martinez-Agosto, Julian, Ockeloen, Charlotte, Vincent, Marie, Sunderland, William James, Bernstein, Jonathan, Eichler, Evan, Vincent, John, Bamshad, Michael

المساهمون: Division of Medical Genetics Seattle, University of Washington Seattle, Détoxication et réparation tissulaire, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Center for Integrative Brain Research Seattle, WA, USA, University of Washington Seattle -Seattle Children's Research Institute, Central South University Changsha, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health (CAMH), Center for Integrative Brain Research, Ambry Genetics Aliso Viejo, CA, USA, China Agricultural University (CAU), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Kennedy Krieger Institute Baltimore, Institute of Human Genetics Erlangen, Allemagne, Universität Leipzig, Yale University New Haven, Oregon Health and Science University Portland (OHSU), McGovern Medical School Houston, Texas, Indiana University - Purdue University Indianapolis (IUPUI), Indiana University System, Indiana University South Bend, The University of Texas at San Antonio (UTSA), New York State Psychiatric Institute, Columbia University New York, Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre Strasbourg, CHU Strasbourg, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), University Medical Center Utrecht, Stanford University School of Medicine CA, USA, Memorial Hermann Heart and Vascular Institute Houston, TX, USA, University of Central Florida Orlando (UCF), Department of Pediatrics Univ California San Diego (UC San Diego), School of Medicine Univ California San Diego (UC San Diego), University of California San Diego (UC San Diego), University of California (UC)-University of California (UC)-University of California San Diego (UC San Diego), University of California (UC)-University of California (UC), University of Colorado Anschutz Aurora, Department of Chemistry and Biochemistry Bern, University of Bern, Columbia University Irving Medical Center (CUIMC), Signal Processing Lab Boise - Idaho, Boise State University, University Hospitals Case Medical Center (CLEVELAND - UHCMC), University Hospitals Case Medical Center, Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire Lille (CHRU Lille), Department of Psychology University North Carolina Wilmington, University of North Carolina Wilmington (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service d'hématologie et immunologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Unité de génétique médicale et oncogénétique CHU Amiens Picardie, CHU Amiens-Picardie, Institut d'histoire du temps présent (IHTP), Centre National de la Recherche Scientifique (CNRS), University of Massachusetts Medical School Worcester (UMASS), University of Massachusetts System (UMASS), Queen's University Kingston, Canada, Department of Molecular Genetics Toronto, University of Toronto, GeneDx Gaithersburg, MD, USA, Department of Genome Sciences Seattle (GS), Department of Pediatrics Stanford, Stanford Medicine, Stanford University-Stanford University, Stanford School of Medicine Stanford, Stanford University, University of California (UC), COMSATS Institute of Information Technology Islamabad (CIIT), Boston Children's Hospital, University of California Los Angeles (UCLA), Radboud University Medical Center Nijmegen, Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Psychiatry, Seattle University Seattle

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: ZNF292, autism spectrum disorders, exome sequencing, intellectual disability, next-generation sequencing, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: hal-02543379; https://hal.umontpellier.fr/hal-02543379; PUBMEDCENTRAL: PMC7060121

الاتاحة: https://hal.umontpellier.fr/hal-02543379
https://doi.org/10.1038/s41436-019-0693-9

المؤلفون: Dries, Annika, Kirillova, Anna, Reuter, Chloe, Zouk, Hana, Hawley, Megan, Tichnell, Crystal, Murray, Brittney, Funke, Birgit, Garcia, John, Haggerty, Christopher M, James, Cynthia, Parikh, Victoria

المصدر: Circulation ; volume 142, issue Suppl_3 ; ISSN 0009-7322 1524-4539

الاتاحة: http://dx.doi.org/10.1161/circ.142.suppl_3.15382

المؤلفون: Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y, Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C, High, Frances A, Sweetser, David A, Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E, Yang, Edward, Waugh, Jeff L, Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gre-Gory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Francis, Holm, Ingrid A, Horn, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M, Jones, Angela L, Karaviti, Lefkothea, Koeller, David M, Kohane, Isaac S, Kohler, Jennefer N, Konick, Susan, Koziura, Mary, Krasnewich, Donna M, Krier, Joel B, Kyle, Jennifer E, Lalani, Seema R, Lau, C Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H, Lee, Hane, Levy, Shawn E, Lewis, Richard A, Lincoln, Sharyn A, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Majch-erska, Marta M, Malicdan, May Christine, Mamounas, Laura A, Manolio, Teri A, Markello, Thomas C, Marom, Ronit, Martin, Martin G, Martinez-Agosto, Julian A, Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E, McCray, Alexa F, Merker, Jason D, Metz, Thomas O, Might, Matthew, Moretti, Paolo M, Morimoto, Marie, Mulvihill, John J, Murdock, David R, Murphy, Jennifer L, Muzny, Donna M, Nehrebecky, Michele E, Nelson, Stan F, Newberry, J Scott, Newman, John H, Nicholas, Sarah K, Novacic, Donna, Orange, Jordan S, Orengo, James P, Pallais, J Carl, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Pena, Loren DM, Phillips, John A, Posey, Jennifer E, Postlethwait, John H, Potocki, Lorraine, Pusey, Barbara N, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenfeld, Jill A, Sampson, Jacinda B, Samson, Susan L, Schoch, Kelly, Scott, Daryl A, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K, Sinsheimer, Janet S, Smith, Kevin S, Spillmann, Rebecca C, Stoler, Joan M, Stong, Nicholas, Sullivan, Jennifer A, Tan, Queenie K-G, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Urv, Tiina K, Vilain, Eric, Vogel, Tiphanie P, Waggott, Daryl M, Wahl, Colleen E, Walker, Melissa, Walley, Nicole M, Walsh, Chris A, Wan, Jijun, Wangler, Michael F, Ward, Patricia A, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Wolfe, Lynne A, Worthey, Elizabeth A, Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J, Yu, Guoyun, Zastrow, Diane B, Zhao, Chunli, Zheng, Allison

المصدر: Epilepsia, vol 60, iss 3
Epilepsia
Volume 60
Issue 3

مصطلحات موضوعية: 0301 basic medicine, Male, Movement disorders, VARIANT, GTP-Binding Protein alpha Subunits, Gi-Go, Neurodegenerative, PHENOTYPE, Gi-Go, Epilepsy, GNAO1, developmental and epileptic encephalopathy, mosaicism, movement disorders, 0302 clinical medicine, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics, 2.1 Biological and endogenous factors, Aetiology, Child, Genetics, Hypotonia, GTP-Binding Protein alpha Subunits, Neurology, Child, Preschool, Female, medicine.symptom, Life Sciences & Biomedicine, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka, Ataxia, Adolescent, Encephalopathy, Clinical Sciences, Clinical Neurology, Biology, MOVEMENT-DISORDER, G-ALPHA(O), Article, 03 medical and health sciences, Young Adult, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Neurology, medicine, Humans, Genetic Predisposition to Disease, Preschool, Genetic Association Studies, Science & Technology, Neurology & Neurosurgery, EPILEPTIC ENCEPHALOPATHY, Neurosciences, Genetic Variation, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Neurologija, Chorea, Undiagnosed Diseases Network, medicine.disease, Brain Disorders, MODEL, 030104 developmental biology, Dyskinesia, DE-NOVO MUTATIONS, Neurodevelopmental Disorders, Case-Control Studies, Neurosciences & Neurology, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1b69e09098a81f728c426e3ae47d2d
https://escholarship.org/uc/item/5mv7d47m