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المؤلفون: Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver
المصدر: Genet Med
مصطلحات موضوعية: Phenotype, Exome Sequencing, Humans, Exome, Genomics, Article, Genetic Association Studies, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b797c7738329d28c572a5aa99b98ff15Test
https://doi.org/10.1016/j.gim.2021.12.005Test -
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المؤلفون: Cosima M. Schmid, Anne Gregor, Gregory Costain, Chantal F. Morel, Lauren Massingham, Jennifer Schwab, Chloé Quélin, Marie Faoucher, Julie Kaplan, Rebecca Procopio, Carol J. Saunders, Ana S.A. Cohen, Gabrielle Lemire, Stephanie Sacharow, Anne O’Donnell-Luria, Ranit Jaron Segal, Jessica Kianmahd Shamshoni, Daniela Schweitzer, Darius Ebrahimi-Fakhari, Kristin Monaghan, Timothy Blake Palculict, Melanie P. Napier, Alice Tao, Bertrand Isidor, Kamran Moradkhani, André Reis, Heinrich Sticht, Wendy K. Chung, Christiane Zweier
المساهمون: University of Bern, CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
المصدر: Genetics in Medicine
Genetics in Medicine, 2023, 25 (7), pp.100839. ⟨10.1016/j.gim.2023.100839⟩مصطلحات موضوعية: MESH: Autism Spectrum Disorder, NDD, MESH: LIM-Homeodomain Proteins, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Intellectual disability, LHX2, MESH: Transcription Factors, ASD, MESH: Intellectual Disability, Neurodevelopmental disorder, Microcephaly, MESH: Haploinsufficiency, 610 Medicine & health, Genetics (clinical), MESH: Neurodevelopmental Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d72e90bda3528f0acb3c17b7f4b124b6Test
https://doi.org/10.1016/j.gim.2023.100839Test -
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المؤلفون: Eleanor G, Seaby, N Simon, Thomas, Amy, Webb, Helen, Brittain, Ana Lisa, Taylor Tavares, Diana, Baralle, Heidi L, Rehm, Anne, O'Donnell-Luria, S M, Wood
المصدر: Human genetics.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::12e04b63966f501f762d9ac8b8d8ef01Test
https://pubmed.ncbi.nlm.nih.gov/36477409Test -
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المؤلفون: Erin E. Duffy, Benjamin Finander, GiHun Choi, Ava C. Carter, Iva Pritisanac, Aqsa Alam, Victor Luria, Amir Karger, William Phu, Maxwell A. Sherman, Elena G. Assad, Naomi Pajarillo, Alexandra Khitun, Elizabeth E. Crouch, Sanika Ganesh, Jin Chen, Bonnie Berger, Nenad Sestan, Anne O’Donnell-Luria, Eric J. Huang, Eric C. Griffith, Julie D. Forman-Kay, Alan M. Moses, Brian T. Kalish, Michael E. Greenberg
المصدر: Nature neuroscience, vol 25, iss 10
مصطلحات موضوعية: Adult, Neurology & Neurosurgery, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research - Induced Pluripotent Stem Cell, General Neuroscience, 1.1 Normal biological development and functioning, Messenger, Glycine, Neurosciences, Brain, Arginine, Stem Cell Research, Gene Expression Regulation, Stem Cell Research - Nonembryonic - Human, Underpinning research, Protein Biosynthesis, Neurological, Genetics, Humans, RNA, Psychology, Cognitive Sciences, RNA, Messenger, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51f1812dea783a335dcb51a8256cbbf1Test
https://escholarship.org/uc/item/6gc2q79kTest -
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المصدر: Genetics in Medicine. 24:2593-2594
مصطلحات موضوعية: Genetics (clinical)
وصف الملف: text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea9ca1c36126e23b43f10f3eb6e2de70Test
https://doi.org/10.1016/j.gim.2022.08.016Test -
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المؤلفون: Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft
المصدر: Neurology Genetics. 9:e200064
مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e2957198293d543650e356306186e74cTest
https://doi.org/10.1212/nxg.0000000000200064Test -
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المصدر: Molecular Genetics and Metabolism. 138:107110
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bfd5a24806dd97f14ea076ad79c98ef4Test
https://doi.org/10.1016/j.ymgme.2022.107110Test -
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المؤلفون: Lynn S. Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha M. Baxter, Stephanie DiTroia, Emily O'Heir, Eleina England, Katherine R. Chao, Gabrielle Lemire, Ikeoluwa Osei‐Owusu, Grace E. VanNoy, Michael Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O'Leary, Alysia Lovgren, Lawrence Babb, Christina A. Austin‐Tse, Heidi L. Rehm, Daniel G. MacArthur, Anne O'Donnell‐Luria
المصدر: Hum Mutat
مصطلحات موضوعية: Internet, Rare Diseases, Genetics, Humans, Exome, Genomics, Genetics (clinical), Software, Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90c9188229c0d21b0aabda26996efacfTest
https://pubmed.ncbi.nlm.nih.gov/35266241Test -
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المؤلفون: Elise B. Robinson, Charles R. Newton, Björn Christ, Celia van der Merwe, Amina Abubakar, Anne O'Donnell Luria, Jake Allen, Kirsty Donald, Patricia Kipkemoi, Emily O'Heir
المساهمون: Consortium, NeuroDev
مصطلحات موضوعية: Pharmacology, Genetics, Psychiatry and Mental health, Neurology, Pharmacology (medical), Neurology (clinical), Biology, Biological Psychiatry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3e39037cf8483c03c5645b8f53ab66bTest
https://ora.ox.ac.uk/objects/uuid:18491a26-529a-44fa-b74d-6e3ec20de83fTest