Lv6
2720 积分 2024-05-20 加入
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
4天前
已完结
[An ADTKD pedigree discovered from Fabry disease screening]
16天前
已完结
[Prenatal gene diagnosis of oculocutaneous albinism type I]
26天前
已关闭
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing
1个月前
已完结
Genetic Basis of Childhood Cardiomyopathy
1个月前
已关闭
129例IgG4相关性疾病患者临床特征分析
2个月前
已完结
IgG4相关性疾病346例临床特征分析
2个月前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
2个月前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
3个月前
已完结
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting
3个月前
已完结
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