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186 积分 2024-05-16 加入
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort
4天前
已完结
Clinical Characteristics of KMT2A Gene‐Related Wiedemann–Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short‐Stature Children
5天前
已完结
Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1
5天前
已完结
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas
6天前
已完结
Novel Mutations in OCTN2 Identified in Newborn Screening Exhibit Reduced Function and Lead to Carnitine Transporter Deficiency
18天前
已关闭
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]
21天前
已关闭
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach
27天前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
27天前
已完结
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome
27天前
已完结
A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants
28天前
已完结
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