Lv7
3580 积分 2023-12-15 加入
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives
6天前
已完结
Pathogenicity analysis of ATP7B in pediatric patients with Wilson’s disease and functional verification of alternative splice variants
7天前
已完结
Novel CD55 Mutation Associated With Severe Small Bowel Ulceration Mimicking Inflammatory Bowel Disease in a Pair of Siblings
9天前
已完结
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis
12天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
16天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
16天前
已完结
ALG8 ‐Driven Metabolic Reprogramming in Polycystic Kidney Disease: A Systematic Synthesis of Evidence Linking Glycosylation Defects to Metabolic Signaling
26天前
已完结
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan
28天前
已完结
Exome sequencing reveals novel candidate gene variants associated with clinical characteristics in alopecia areata patients
1个月前
已完结
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype
2个月前
已完结
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