Lv611
2480 积分 2023-09-20 加入
[Mutational analysis of 117 patients with non-syndromic hearing loss]
1天前
已完结
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome
1天前
已完结
X-linked BCOR variants identified in Chinese Han patients with congenital heart disease
2天前
已完结
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
7天前
已完结
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease
7天前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
8天前
已完结
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
16天前
已完结
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene
17天前
已完结
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening
25天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
30天前
已完结
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