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American Journal of Human Genetics|March 26, 2019
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in HumansRanad Shaheen, Nan Jiang, Fatema Alzahrani, et al.Annals of Neurology|March 24, 2005
Distinguishing the four genetic causes of Jouberts syndrome-related disordersEnza Maria Valente, Sarah E Marsh, Marco Castori, et al.Clinical Genetics|April 14, 2023
Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLSMaha S Zaki, Wessam E Sharaf-Eldin, Karima Rafat, et al.Journal of Medical Genetics|November 30, 2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)Abolfazl Rad, Umut Altunoglu, Rebecca Miller, et al.Neuron|February 5, 2019
Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural ProgenitorsHongda Li, Laura Saucedo-Cuevas, Ling Yuan, et al.Cell Reports|April 13, 2022
A Zika virus mutation enhances transmission potential and confers escape from protective dengue virus immunityJose Angel Regla-Nava, Ying-Ting Wang, Camila R Fontes-Garfias, et al.Brain : a Journal of Neurology|August 15, 2019
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2Roberta De Mori, Mariasavina Severino, Maria Margherita Mancardi, et al.Cell Stem Cell|November 4, 2025
A phenotypic brain organoid atlas and biobank for neurodevelopmental disordersLu Wang, Yuji Nakamura, Junhao Li, et al.Nature Genetics|June 2, 2022
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sexDanny Antaki, James Guevara, Adam X Maihofer, et al.Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysisPatrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.Pageof 31