Associated Papers
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 2020
32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS29
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.
Widowati T et al.
European Journal of Human Genetics : Ejhg, 2016
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
Ma J et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Polymorphisms in endothelin system genes, arsenic levels and obesity risk.
Martínez-Barquero V et al.
Plos One, 2015
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.
Cui L et al.
Plos One, 2013
Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.
Jiang L et al.
Biochemical and Biophysical Research Communications, 2011
Genetics and pathophysiology of arterial stiffness.
Lacolley P et al.
Cardiovascular Research, 2009
Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes.
Kim SH et al.
Molecular Vision, 2006
Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects.
Iemitsu M et al.
Hypertension (dallas, Tex. : 1979), 2006
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