Lv4
620 积分 2023-09-25 加入
Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study
23天前
已完结
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
1个月前
已完结
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis
1个月前
已完结
Generalized Verrucosis on a Background of 3C Syndrome Treated With Subcutaneous IgG Supplementation
2个月前
已完结
Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy
3个月前
已完结
Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis
3个月前
已关闭
Fructose as a key biomarker for prognostication in idiopathic obstructive azoospermia associated with CFTR and ADGRG2 gene variants
3个月前
已完结
[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients]
3个月前
已完结
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review
5个月前
已完结
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease
6个月前
已完结
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