Lv11
40 积分 2025-03-06 加入
Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene
23天前
已完结
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants
1个月前
已完结
Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule
1个月前
已完结
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy
1个月前
已完结
Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects
1个月前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
1个月前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
1个月前
已完结
Clinical exome sequencing findings in 1589 patients
2个月前
已完结
Mutational profile of hereditary breast and ovarian cancer – Establishing genetic testing guidelines in a developing country
4个月前
已完结
[Investigation of multiple organ involvement in Fabry disease]
5个月前
已完结
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