Lv41
720 积分 2023-01-11 加入
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
28天前
已完结
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
29天前
已完结
Integrated genotype–phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2 ‐related disorders
1个月前
已完结
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin–Lowry syndrome
1个月前
已完结
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants
1个月前
已完结
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience
1个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
1个月前
已完结
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience
1个月前
已完结
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