Lv6
2050 积分 2023-12-05 加入
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
11小时前
待确认
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
14小时前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
8天前
已完结
Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion
9天前
已完结
WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer
13天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
14天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
14天前
已完结
Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights
24天前
已完结
Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas
1个月前
已完结
Novel ATP13A2 and PINK1 variants identified in Chinese patients with Parkinson’s disease by whole-exome sequencing
1个月前
已完结
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