Lv51
1267 积分 2022-05-11 加入
Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation
3小时前
求助中
Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes
1个月前
已完结
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
1个月前
已完结
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
1个月前
已完结
Detection of hemophilia a genetic variants using third-generation long-read sequencing
2个月前
已完结
Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency
2个月前
已完结
[Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]
2个月前
已关闭
[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]
2个月前
已关闭
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
2个月前
已完结
Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese
2个月前
已完结
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