Lv1
30 积分 2025-01-07 加入
Subacute hypoglycemia during gastroenteritis in a child with medium‐chain acyl‐CoA dehydrogenase deficiency
1天前
待确认
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
1天前
已完结
Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency
8天前
已完结
Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects
8天前
已完结
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses
21天前
已完结
A child with febrile and atypical absence seizures caused by a NLGN2 variant
26天前
已关闭
A child with febrile and atypical absence seizures caused by a NLGN2 variant
28天前
已关闭
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia
1个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
2个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
2个月前
已完结
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