Lv4
800 积分 2022-11-01 加入
Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency
29天前
已完结
Exploring factors impacting haplotype‐based noninvasive prenatal diagnosis for single‐gene recessive disorders
29天前
已完结
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease
1个月前
已完结
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation
1个月前
已关闭
Compound Heterozygous Familial Hypercholesterolemia and Familial Defective Apolipoprotein B-100 Produce Exaggerated Hypercholesterolemia
1个月前
已完结
Pitfalls of X‐chromosome inactivation testing in females with Fabry disease
1个月前
已完结
Italian recommendations for the management of pediatric patients under twelve years of age with suspected or manifest Brugada syndrome
1个月前
已完结
[Clinical and genetic characteristics of Gitelman syndrome in 5 pedigrees]
1个月前
已完结
Whole-exome Sequencing Screening for Candidate Genes and Variants Associated with Primary Sporadic Keratoconus in Chinese Patients
1个月前
已完结
Fetal and postnatal neuroimaging of SUZ12-related overgrowth: Imagawa-matsumoto syndrome
1个月前
已完结
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