Lv1
40 积分 2024-12-02 加入
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant
7天前
已完结
A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome
10天前
已完结
Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature
10天前
已完结
[Analysis of PDK1 gene variants and prenatal diagnosis for eight pedigrees affected with autosomal dominant polycystic kidney disease]
14天前
已完结
[Analysis of PDK1 gene variants and prenatal diagnosis for eight pedigrees affected with autosomal dominant polycystic kidney disease]
19天前
已完结
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome
28天前
已完结
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
28天前
已完结
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
29天前
已完结
Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays
1个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
1个月前
已完结
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