Lv61
1622 积分 2024-06-13 加入
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia
6天前
已完结
Optic Disc Drusen Prevalence in Patients With Retinitis Pigmentosa: A Cross-Sectional Study
9天前
已完结
Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD
14天前
已完结
Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism
18天前
已完结
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss
26天前
已完结
Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type Ⅰ
26天前
已完结
The genetics of progressive pseudorheumatoid dysplasia
26天前
已完结
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice
28天前
已完结
A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome
28天前
已完结
Utility of germline multi-gene panel testing in patients with endometrial cancer
1个月前
已完结
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