Associated Papers
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
Genetic Characterization of GnRH/LH-Responsive Primary Aldosteronism.
Gagnon N et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
29649263 (PubMed )
Supplement: pone.0195761.s004.xlsx › S4
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
Nishimura M et al.
Bmc Medical Genetics, 2017
28595573 (PubMed )
Supplement: 12881_2017_430_MOESM1_ESM.xlsx › Sheet1
Genetic variation in the parasympathetic signaling pathway in patients with reflex syncope.
Holmegard HN et al.
Genetics and Molecular Research : Gmr, 2013
Influence of age on the association of GIRK4 with metabolic syndrome.
Li N et al.
Annals of Clinical Biochemistry, 2012
KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.
Xekouki P et al.
Endocrine-related Cancer, 2012
Common polymorphisms in KCNJ5 [corrected] are associated with early-onset lone atrial fibrillation in Caucasians.
Jabbari J et al.
Cardiology, 2011
Select a paper to view details