Lv21
130 积分 2023-07-21 加入
Investigation of FRMPD4 variants associated with X-linked epilepsy
2天前
已完结
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome
7天前
已完结
46,XY disorders of sex development: the use of NGS for prevalent variants
8天前
已完结
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
9天前
已完结
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
9天前
已完结
Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6
11天前
已完结
The complexities of CACNA1A in clinical neurogenetics
14天前
已完结
Identification of LRP5 mutations in families with familial exudative vitreoretinopathy
16天前
已完结
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region
17天前
已关闭
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
24天前
已完结
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