Lv1
40 积分 2026-01-16 加入
A rare complex structural variant of novel intragenic inversion combined with reciprocal translocation t(X;1)(p21.2;p13.3) in Duchenne muscular dystrophy
2天前
已完结
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt
5天前
已完结
First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum
5天前
已完结
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
9天前
已完结
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease
20天前
已完结
283rd ENMC international workshop: Establishing expert care recommendations for LAMA2-RD: A prototype for the development of congenital muscular dystrophy subtype-specific care guidelines. Hoofddorp, The Netherlands, January 17th-19th 2025
27天前
已完结
Myelin abnormalities in merosin-deficient congenital muscular dystrophy
29天前
已完结
Clin Genet . 2026 Jan;109(1):99-108. doi: 10.1111/cge.70027. Epub 2025 Jul 22. French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants
1个月前
已完结
X-linked hypophosphataemia
1个月前
已完结
NR2F1基因变异致视神经萎缩并全面发育障碍患儿1例的遗传学分析
1个月前
已完结
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