Lv4
520 积分 2023-09-25 加入
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis
1天前
已完结
Generalized Verrucosis on a Background of 3C Syndrome Treated With Subcutaneous IgG Supplementation
5天前
已完结
Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy
1个月前
已完结
Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis
1个月前
已关闭
Fructose as a key biomarker for prognostication in idiopathic obstructive azoospermia associated with CFTR and ADGRG2 gene variants
1个月前
已完结
[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients]
1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
3个月前
已完结
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease
4个月前
已完结
Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families
4个月前
已完结
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
7个月前
已完结
皖公网安备34019202002308
