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Publicaciones en la fuente HUMAN MOLECULAR GENETICS

Tipo Año Título Fuente
Artículo2023GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.HUMAN MOLECULAR GENETICS
Artículo2023Metabolic liver cancer: associations of rare and common germline variants in one-carbon metabolism and DNA methylation genesHUMAN MOLECULAR GENETICS
Artículo2022Detailed stratified GWAS analysis for severe COVID-19 in four European populations.HUMAN MOLECULAR GENETICS
Artículo2022Novel genes and sex differences in COVID-19 severity.HUMAN MOLECULAR GENETICS
Artículo2021Calcium is reduced in presynaptic mitochondria of motor nerve terminals during neurotransmission in SMA mice.HUMAN MOLECULAR GENETICS
Artículo2019Docosahexaenoic acid reduces microglia phagocytic activity via miR-124 and induces neuroprotection in rodent models of spinal cord contusion injuryHUMAN MOLECULAR GENETICS
Artículo2016Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular AtrophyHUMAN MOLECULAR GENETICS
Artículo2016Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung diseaseHUMAN MOLECULAR GENETICS
Artículo2015Fhl1 W122S causes loss of protein function and late-onset mild myopathyHUMAN MOLECULAR GENETICS
Corrección2014Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds (vol 22, pg 633, 2013)HUMAN MOLECULAR GENETICS
Artículo2013Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compoundsHUMAN MOLECULAR GENETICS
Artículo2013Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionalityHUMAN MOLECULAR GENETICS
Artículo2012Risk variants for psoriasis vulgaris in a large case-control collection and association with clinical subphenotypesHUMAN MOLECULAR GENETICS
Artículo2010Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophyHUMAN MOLECULAR GENETICS
Corrección2006Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle (vol 14, pg 3865, 2005)HUMAN MOLECULAR GENETICS
Artículo2005Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleHUMAN MOLECULAR GENETICS
Artículo2005Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) miceHUMAN MOLECULAR GENETICS
Nota1994Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosaHUMAN MOLECULAR GENETICS