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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 15, 2010
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael S L Ching, Yiping Shen, Wen-Hann Tan, et al.Pediatrics|March 17, 2010
Clinical genetic testing for patients with autism spectrum disordersYiping Shen, Kira A Dies, Ingrid A Holm, et al.JAMA Neurology|July 24, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaShyam K Akula, Allen Y Chen, Jennifer E Neil, et al.The Journal of Clinical Investigation|November 9, 2020
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stressElisa De Franco, Maria Lytrivi, Hazem Ibrahim, et al.Proceedings of the National Academy of Sciences of the United States of America|January 20, 2023
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous systemShyam K Akula, Jack H Marciano, Youngshin Lim, et al.Biorxiv : the Preprint Server for Biology|December 25, 2025
Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapesYang Zhang, Vinayak V Viswanadham, Michail Andreopoulos, et al.JAMA Neurology|May 1, 2023
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe EpilepsySattar Khoshkhoo, Yilan Wang, Yasmine Chahine, et al.Science (New York, N.Y.)|April 29, 2017
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism NetworkMichael J McConnell, John V Moran, Alexej Abyzov, et al.Science (New York, N.Y.)|October 12, 2023
Comparative transcriptomics reveals human-specific cortical featuresNikolas L Jorstad, Janet H T Song, David Exposito-Alonso, et al.American Journal of Human Genetics|November 1, 2019
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline M Dias, Jaya Punetha, Céline Zheng, et al.Pageof 41