Lv6
2210 积分 2023-12-05 加入
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
2天前
已完结
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
2天前
已完结
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
2天前
已完结
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort
8天前
已完结
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA
16天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
19天前
已完结
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
19天前
已完结
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin
22天前
已完结
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
24天前
已完结
Short Stature With Optic Atrophy and Cone Dystrophy
1个月前
已完结
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