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Nature Genetics|January 18, 2005
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2Louise A Metherell, J Paul Chapple, Sadani Cooray, et al.Diabetes|May 27, 2003
Fetal programming of perivenous glucose uptake reveals a regulatory mechanism governing hepatic glucose output during refeedingHelena C Murphy, Gemma Regan, Irina G Bogdarina, et al.The Journal of Clinical Endocrinology and Metabolism|March 8, 2014
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD)Rathi Prasad, Li F Chan, Claire R Hughes, et al.Proceedings of the National Academy of Sciences of the United States of America|March 31, 2009
MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor familyLi F Chan, Tom R Webb, Teng-Teng Chung, et al.Brain : a Journal of Neurology|April 22, 2017
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UKSarah Morgan, Aleksey Shatunov, William Sproviero, et al.Neuron|March 19, 2013
Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levelsFernando Bartolome, Hsiu-Chuan Wu, Victoria S Burchell, et al.Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases|September 18, 2003
No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disordersAzlina Ahmad-Annuar, Paresh Shah, Majid Hafezparast, et al.Nature Genetics|May 29, 2012
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiencyEirini Meimaridou, Julia Kowalczyk, Leonardo Guasti, et al.The Journal of Clinical Endocrinology and Metabolism|September 24, 2009
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiencyLouise A Metherell, Danielle Naville, George Halaby, et al.European Journal of Human Genetics : EJHG|April 25, 2013
Homozygosity analysis in amyotrophic lateral sclerosisKin Mok, Hannu Laaksovirta, Pentti J Tienari, et al.Pageof 13