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European Journal of Human Genetics : EJHG|January 12, 2012
ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasibleMartin B Delatycki, Michelle Wolthuizen, Veronica Collins, et al.
American Journal of Medical Genetics. Part A|June 5, 2021
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutationsChloe A Stutterd, Alexa Kidd, Chris Florkowski, et al.
Neurology. Genetics|April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 lossAshley P L Marsh, Vesna Lukic, Kate Pope, et al.
Molecular Cell|November 23, 2016
Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink RepairBruno Vaz, Marta Popovic, Joseph A Newman, et al.
Brain : a Journal of Neurology|August 21, 2016
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasiaJijun Wan, Janos Steffen, Michael Yourshaw, et al.
Frontiers in Immunology|April 23, 2021
Clonally Focused Public and Private T Cells in Resected Brain Tissue From Surgeries to Treat Children With Intractable SeizuresJulia W Chang, Samuel D Reyes, Emmanuelle Faure-Kumar, et al.
Cell Reports|February 2, 2018
DCC Is Required for the Development of Nociceptive Topognosis in Mice and HumansRonan V da Silva, Helge C Johannssen, Matthias T Wyss, et al.
Annals of Neurology|December 26, 2015
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxiaCharles A Galea, Aamira Huq, Paul J Lockhart, et al.
Orphanet Journal of Rare Diseases|March 29, 2014
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiencyJoe C H Sim, Susan M White, Elizabeth Fitzpatrick, et al.
Neurology. Genetics|May 5, 2018
Somatic <i>GNAQ</i> mutation in the <i>forme fruste</i> of Sturge-Weber syndromeMichael S Hildebrand, A Simon Harvey, Stephen Malone, et al.
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