Lv3
300 积分 2023-06-20 加入
Prenatal diagnosis for Epidermolysis bullosa: a study of 144 consecutive pregnancies at risk
2天前
已完结
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis
2天前
已完结
High sperm DNA fragmentation increased embryo aneuploidy rate in patients undergoing preimplantation genetic testing
5天前
已完结
High Prevalence of the Connexin 26 (GJB2) Mutation in Chinese Cochlear Implant Recipients
28天前
已完结
Sirolimus in infants with congenital hyperinsulinism (CHI) — a single-centre experience
29天前
已完结
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations
1个月前
已完结
A 3‐base pair in‐frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late‐onset hyperammonemic coma
1个月前
已关闭
Estimation of the total number of disease‐causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential
1个月前
已完结
Mutations profile in Chinese patients with hypertrophic cardiomyopathy
1个月前
已完结
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
1个月前
已完结
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