Lv1
20 积分 2023-03-31 加入
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV
6天前
已完结
Secondary Paroxysmal Kinesigenic Dyskinesia with a CASR Mutation
10天前
已完结
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
10天前
已完结
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
24天前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
1个月前
已完结
High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients
1个月前
已关闭
Surgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome
1个月前
已完结
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus
1个月前
已完结
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation
1个月前
已关闭
Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion
1个月前
已完结
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