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184 积分 2023-08-29 加入
Clinical and Genetic Spectrum of Dual Rare Genetic Diseases Revealed by Whole-Exome Sequencing in 14 Pediatric Patients
10天前
已完结
[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses]
10天前
已完结
Dual genetic diagnoses: AIRE and FOXRED1-Related Syndromes in two brothers
10天前
已完结
Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta
15天前
已完结
COL1 ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
15天前
已完结
Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy
19天前
已完结
Prognosis for loss-of-function vs hot-spot variants in RBM20-related cardiomyopathy
23天前
已完结
Neonatal genetic screening of Glucose‐6‐phosphate dehydrogenase deficiency through next‐generation sequencing
1个月前
已关闭
The role of exome sequencing in newborn screening for inborn errors of metabolism
1个月前
已完结
Paediatric genomics: diagnosing rare disease in children
1个月前
已完结
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