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Journal of Inherited Metabolic Disease|March 18, 2021
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypesHind Alsharhan, Miao He, Andrew C Edmondson, et al.Neuro-Oncology|March 6, 2015
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosisE Zeynep Erson-Omay, Ahmet Okay Çağlayan, Nikolaus Schultz, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsyDaniel G Calame, Somayeh Bakhtiari, Rachel Logan, et al.Proceedings of the National Academy of Sciences of the United States of America|April 12, 2023
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart diseaseKetu Mishra-Gorur, Tanyeri Barak, Leon D Kaulen, et al.The New England Journal of Medicine|May 7, 2010
L-histidine decarboxylase and Tourette's syndromeA Gulhan Ercan-Sencicek, Althea A Stillman, Ananda K Ghosh, et al.Nature|January 1, 2025
Dysregulation of mTOR signalling is a converging mechanism in lissencephalyCe Zhang, Dan Liang, A Gulhan Ercan-Sencicek, et al.Nature Genetics|November 11, 2008
Susceptibility loci for intracranial aneurysm in European and Japanese populationsKaya Bilguvar, Katsuhito Yasuno, Mika Niemelä, et al.Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.Neurobiology of Aging|February 16, 2015
The distinct genetic pattern of ALS in Turkey and novel mutationsAslıhan Özoğuz, Özgün Uyan, Güneş Birdal, et al.Nature Genetics|December 1, 2015
Integrated genomic characterization of IDH1-mutant glioma malignant progressionHanwen Bai, Akdes Serin Harmancı, E Zeynep Erson-Omay, et al.Pageof 13