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journal of human genetics
سال:2017 - دوره:62 - شماره:7
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis
- صفحه:733-735
Components of the folate metabolic pathway and ADHD core traits: an exploration in eastern Indian probands
- صفحه:687-695
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2
- صفحه:703-709
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome
- صفحه:723-727
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation
- صفحه:717-721
Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event
- صفحه:711-715
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families
- صفحه:697-701
Periodontal disease and FAM20A mutations
- صفحه:679-686
Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients
- صفحه:665-670
The microRNA expression signature of small cell lung cancer: tumor suppressors of miR-27a-5p and miR-34b-3p and their targeted oncogenes
- صفحه:671-678
UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia
- صفحه:729-731
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