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

المؤلفون: Yoel Gofin, Tianyun Wang, Madelyn A. Gillentine, Tiana M. Scott, Aliska M. Berry, Mahshid S. Azamian, Casie Genetti, Pankaj B. Agrawal, Jonathan Picker, Monica H. Wojcik, Mauricio R. Delgado, Sally A. Lynch, Stephen W. Scherer, Jennifer L. Howe, Carlos A. Bacino, Stephanie DiTroia, Grace E. VanNoy, Anne O'Donnell‐Luria, Seema R. Lalani, William D. Graf, Jill A. Rosenfeld, Evan E. Eichler, Rachel K. Earl, Daryl A. Scott

المصدر: Hum Mutat

مصطلحات موضوعية: Mice, Phenotype, Autism Spectrum Disorder, Neurodevelopmental Disorders, Intellectual Disability, Genetics, PAX5 Transcription Factor, Animals, Humans, Haploinsufficiency, Genetics (clinical), Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::592fe4dad054b12b1afb2086078722c3Test
https://pubmed.ncbi.nlm.nih.gov/35094443Test