Lv1
48 积分 2023-08-16 加入
Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency
1个月前
已完结
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
2个月前
已完结
Successful live birth in women with partial 17α-hydroxylase deficiency: report of two cases
2个月前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
2个月前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
3个月前
已完结
Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses]
3个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
3个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
3个月前
已完结
Implications of Genetic Testing in Dilated Cardiomyopathy
3个月前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
4个月前
已完结
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