Lv74
3320 积分 2024-05-20 加入
Pleomorphic dermal sarcoma presenting in a child with Li-Fraumeni syndrome: A case report and review of the literature
1个月前
已完结
Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL
1个月前
已关闭
[Functional expression of congenital long QT syndrome related HERG mutation A561V in vitro]
1个月前
已完结
Lysinuric protein intolerance: reviewing concepts on a multisystem disease
2个月前
已关闭
First case report of effective and safe application of cannabidiol to treat concurrent ALG3-CDG and Lennox–Gastaut Syndrome
3个月前
已完结
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
4个月前
已完结
[An ADTKD pedigree discovered from Fabry disease screening]
4个月前
已完结
[Prenatal gene diagnosis of oculocutaneous albinism type I]
4个月前
已关闭
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing
5个月前
已完结
Genetic Basis of Childhood Cardiomyopathy
5个月前
已关闭
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