Lv3
210 积分 2023-11-29 加入
The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review
1个月前
已完结
The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
1个月前
已完结
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms
1个月前
已完结
[Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency]
5个月前
已完结
[Genetic analysis of a patient with late infantile metachromatic leukodystrophy]
5个月前
已完结
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
5个月前
已完结
Characterization of Mutant Holocarboxylase Synthetase (HCS): AKm for Biotin Was Not Elevated in a Patient with HCS Deficiency
5个月前
已关闭
Delayed-Onset ADA1 (ADA) Deficiency Not Detected by TREC Screen
5个月前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
5个月前
已完结
Advancements and future directions in Oguchi disease research
5个月前
已完结
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