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38 积分 2024-12-02 加入
[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations]
2天前
已完结
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy
2天前
已完结
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
12天前
已完结
Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome
14天前
已完结
Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study
22天前
已完结
Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS)
1个月前
已完结
Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects
1个月前
已关闭
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling
1个月前
已完结
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