Lv21
152 积分 2024-11-05 加入
Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia
2小时前
已完结
Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency
5天前
已完结
Metabolic and Isotopic Correlations between D-Glucose, L-Ascorbic Acid and L-Tartaric Acid
8天前
已完结
Identification of aPRXvariant in a Chinese family with congenital cataract by exome sequencing
13天前
已完结
Maternal phenylketonuria. Course of two pregnancies
14天前
已关闭
Maternal phenylketonuria: comparison of two treated full term pregnancies
14天前
已完结
Correlation of prenatal ultrasound diagnosis and pathologic findings in fetuses with trisomy 13
21天前
已完结
Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings
21天前
已关闭
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
30天前
已完结
Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria
1个月前
已关闭
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