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Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing
2天前
已完结
[Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province]
5天前
已完结
Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province
5天前
已完结
A novel missense compound heterozygous variant in TLR1 gene is associated with susceptibility to rheumatoid arthritis — structural perspective and functional annotations
16天前
已完结
[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I]
22天前
已完结
Society for the Study of Inborn Errors of Metabolism (SSIEM) 36th annual symposium. York, 1-4 September 1998. Abstracts
22天前
已关闭
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
25天前
已完结
Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis
29天前
已关闭
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
1个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
1个月前
已完结
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