Lv44
520 积分 2022-05-13 加入
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
14天前
已完结
Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention
14天前
已完结
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
15天前
已完结
A novel compound heterozygous mutation in the DNAH9 gene causes primary ciliary dyskinesia
15天前
已完结
Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China
1个月前
已完结
Ovarian cancer risk of Chinese women with BRCA1/2 germline pathogenic variants
1个月前
已完结
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients
1个月前
已完结
Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2
7个月前
已完结
Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy
7个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
7个月前
已完结
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