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Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.Brain : a Journal of Neurology|March 19, 2015
CHD2 variants are a risk factor for photosensitivity in epilepsyElizabeth C Galizia, Candace T Myers, Costin Leu, et al.Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.The Journal of Clinical Investigation|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.Science Translational Medicine|December 17, 2010
Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancerJonathan Weiss, Martin L Sos, Danila Seidel, et al.Journal of the National Cancer Institute|June 16, 2010
Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer ConsortiumTherese Truong, Rayjean J Hung, Christopher I Amos, et al.The Journal of Clinical Investigation|September 5, 2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndromeDaniela A Braun, Svjetlana Lovric, David Schapiro, et al.Pageof 52