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Human Molecular Genetics|September 16, 2017
Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapySimona Torriano, Nejla Erkilic, Valérie Faugère, et al.Human Molecular Genetics|September 16, 2017
Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemiaMariagrazia Grimaldi, Melis Karaca, Livia Latini, et al.Human Molecular Genetics|September 1, 2017
RNA expression in human retinaMingyao Li, Randy J Zauhar, Clare Grazal, et al.Human Molecular Genetics|September 1, 2017
Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities studyPaul S de Vries, Bing Yu, Elena V Feofanova, et al.Human Molecular Genetics|April 24, 2016
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degenerationPooja Biswas, Venkata Ramana Murthy Chavali, Giulia Agnello, et al.Human Molecular Genetics|April 21, 2016
LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factorsSimona Pilotto, Valentina Speranzini, Chiara Marabelli, et al.Human Molecular Genetics|April 30, 2016
Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomesJohanna I Busch, Travis L Unger, Nimansha Jain, et al.Human Molecular Genetics|May 1, 2016
Oxidative metabolism and Ca2+ handling in isolated brain mitochondria and striatal neurons from R6/2 mice, a model of Huntington's diseaseJames Hamilton, Jessica J Pellman, Tatiana Brustovetsky, et al.Human Molecular Genetics|May 1, 2016
ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C geneMaria Chatzifrangkeskou, Caroline Le Dour, Wei Wu, et al.Human Molecular Genetics|May 7, 2016
EZH2 is overexpressed in adrenocortical carcinoma and is associated with disease progressionCoralie Drelon, Annabel Berthon, Mickael Mathieu, et al.Pageof 1,195