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Identification of a novel pathogenic COL4A3 gene mutation in a Chinese family with autosomal dominant Alport syndrome: A case report.


A compound heterozygous PINK1-associated juvenile Parkinson’s disease with pregnancy in Chinese


Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness



Diagnosis of catecholaminergic polymorphic ventricular tachycardia during late adulthood due to a rare genetic variant in RYR2: a case report



Myocardial strain measured via two-dimensional speckle-tracking echocardiography in a family diagnosed with arrhythmogenic left ventricular cardiomyopathy



Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis



Papillary Thyroid Cancer Affecting Multiple Family Members: A Case Report and Literature Review of Familial Nonmedullary Thyroid Cancer



Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance


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10.3760/CMA.J.ISSN.1006-7876.2019.06.004

Paramyotonia congenita and hypokalemic periodic paralysis in a family with mutation p.R1448H in α-subunit type IV of voltage gated sodium channel gene



Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance



In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer.



Lipoid proteinosis and epilepsy: Molecular analysis -



The same mutation in a family with adenosine deaminase 2 deficiency


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