Lv54
820 积分 2023-09-20 加入
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
8天前
已完结
Prenatal diagnosis and outcomes in fetuses with duplex kidney
1个月前
已完结
Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review
1个月前
已完结
Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
1个月前
已完结
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
1个月前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
1个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
1个月前
已完结
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
1个月前
已完结
[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria]
1个月前
已关闭
[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria]
1个月前
已关闭
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