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130 积分 2024-12-05 加入
Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India
2天前
已完结
A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature
2天前
已完结
Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
3天前
已完结
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia
7天前
已完结
Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations
16天前
已完结
Research advances in the pathogenesis and treatment of neurodegeneration with brain iron accumulation
1个月前
已关闭
Compound Heterozygous Familial Hypercholesterolemia and Familial Defective Apolipoprotein B-100 Produce Exaggerated Hypercholesterolemia
1个月前
已完结
[In vitro expression study of novel mutations in phenylalanine hydroxylase gene]
1个月前
已完结
Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing
1个月前
已关闭
Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism
2个月前
已完结
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