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The American Journal of Human Genetics is a monthly peer-reviewed scientific journal in the field of human genetics. It was established in 1948 by the American Society of Human Genetics and covers all aspects of heredity in humans, including the application of genetics in medicine and public policy, as well as the related areas of molecular and cell biology. According to the Journal Citation Reports, the journal has a 2019 impact factor of 10.502. The journal is published by Cell Press an imprint of Elsevier. Bruce R. Korf became the editor-in-chief in the winter of 2017–2018. Source: Wikipedia (en)
Editions published in American Journal of Human Genetics 200
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The Divergence of Neandertal and Modern Human Y Chromosomes
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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
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Characterization of large structural genetic mosaicism in human autosome
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Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
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AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking
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Mutations in EMP2 cause childhood-onset nephrotic syndrome
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
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Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
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ELOVL5 mutations cause spinocerebellar ataxia 38
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Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome
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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation
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Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type
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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
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Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
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Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex
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Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
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Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
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Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
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ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry
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Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice
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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
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Genome-wide linkage and association analyses implicate FASN in predisposition to Uterine Leiomyomata
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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
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A subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traits
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Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
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TCTN3 mutations cause Mohr-Majewski syndrome
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RTTN mutations link primary cilia function to organization of the human cerebral cortex
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VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families
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Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia
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Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death
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Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus
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Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization
Subject - wd:Q4744249