Lv52
1072 积分 2024-12-18 加入
Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy
1天前
待确认
Antenatal presentation of hereditary lymphedema type I
1天前
待确认
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
1天前
待确认
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema
1天前
待确认
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2
1天前
待确认
Molecular diagnostic dilemmas in Rett syndrome
1天前
待确认
Klinefelter Syndrome: A Review
2天前
已完结
Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
14天前
已完结
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
16天前
已完结
A case of a rare variant of Klinefelter syndrome, 47,XY,i(X)(q10)
17天前
已完结
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