Lv3
220 积分 2024-03-27 加入
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
1天前
待确认
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge
1天前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing
7天前
已完结
Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing
7天前
已完结
Loss-of-Function Plays a Major Role in Early Neurogenesis of Tubulin α-1 A (TUBA1A) Mutation-Related Brain Malformations
8天前
已完结
ANGPTL3 Mutations in Unrelated Chinese Han Patients with Familial Hypercholesterolemia
10天前
已完结
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
15天前
已完结
A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease
16天前
已完结
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
16天前
已完结
Analysis of pathogenic variants in 605 Chinese children with non-syndromic cardiac conotruncal defects based on targeted sequencing
20天前
已完结
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