Lv4
620 积分 2023-09-25 加入
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
8天前
已完结
Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis
19天前
已完结
Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study
2个月前
已完结
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
2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
3个月前
已完结
Generalized Verrucosis on a Background of 3C Syndrome Treated With Subcutaneous IgG Supplementation
3个月前
已完结
Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy
4个月前
已完结
Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis
5个月前
已关闭
Fructose as a key biomarker for prognostication in idiopathic obstructive azoospermia associated with CFTR and ADGRG2 gene variants
5个月前
已完结
[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients]
5个月前
已完结
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