المؤلفون: Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, The Texome Project, Michael F. Wangler, Sandesh Nagamani

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)

مصطلحات موضوعية: exome sequencing, retinal dystrophy, retinitis pigmentosa, RPGR, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/644af10dc66f4c1cac283df6900e335b

المؤلفون: Paul C. Marcogliese, Samantha L. Deal, Jonathan Andrews, J. Michael Harnish, V. Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei-Chu Huang, Colleen M. Longley, Hsiao-Tuan Chao, Hyung-lok Chung, Nele A. Haelterman, Oguz Kanca, Sathiya N. Manivannan, Linda Z. Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaetan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frederic Tran Mau-Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto

المساهمون: Clinical Genetics

المصدر: Cell Reports, 38(11):110517. Cell Press

مصطلحات موضوعية: humanization, T2A-GAL4, Autism Spectrum Disorder, Glycine, undiagnosed diseases, autism spectrum disorder, Drosophila melanogaster, functional genomics, GLRA2, GluClalpha, missense variants, rare genetic diseases, TG4, Animals, Genetic Predisposition to Disease, Humans, Autistic Disorder, Drosophila, Neurodevelopmental Disorders, Receptors, Glycine, General Biochemistry, Genetics and Molecular Biology, Receptors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444111bda1ed722613ad9800aa33c493
https://doi.org/10.1016/j.celrep.2022.110517

المؤلفون: Stacey Aldrich, Ryan J. German, Jacqueline Peacock, Heather Fecteau, Robert Carlson

المصدر: Obstetrics & Gynecology. 139:70S-70S

مصطلحات موضوعية: Obstetrics and Gynecology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9124fb414dace7503c0a087e4582a18d
https://doi.org/10.1097/01.aog.0000826248.84589.26