Showing results (121-130 of 153) with videos related to
Sort By:
Pageof 16
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, et al.Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.American Journal of Human Genetics|December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.Annals of Neurology|September 12, 2024
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)Widad Abou Chaar, Anirudh N Eranki, Hannah A Stevens, et al.Nature Genetics|September 29, 2014
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresDavor Lessel, Bruno Vaz, Swagata Halder, et al.American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.Acta Neuropathologica|February 28, 2016
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumorsBarbara Rivera, Tenzin Gayden, Jian Carrot-Zhang, et al.Neuron|February 26, 2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant LissencephalyMeng-Han Tsai, Alison M Muir, Won-Jing Wang, et al.Pageof 16