Lv51
1257 积分 2024-12-05 加入
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
26天前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
2个月前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
2个月前
已完结
Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review
2个月前
已完结
Accumulation of free 3-hydroxy fatty acids in the culture media of fibroblasts from patients deficient in long-chain l-3-hydroxyacyl-CoA dehydrogenase: a useful diagnostic aid
2个月前
已完结
Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families
3个月前
已完结
Genetic Basis of Childhood Cardiomyopathy
3个月前
已完结
Leukoencephalopathy with calcifications and cysts: A case report with literature review
3个月前
已完结
Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4
3个月前
已完结
SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity
3个月前
已完结
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