Lv11
72 积分 2022-06-21 加入
Nonsyndromic arteriopathy and aortopathy and vascular Ehlers–Danlos syndrome causing COL3A1 variants
57分钟前
已完结
Discovering the pathogenesis of a VUS variant in CDH23 associated with sensorineural hearing loss in an Iranian family
1个月前
已完结
Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23
1个月前
已完结
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes
2个月前
已完结
Structural and functional exploration of three newly identified coagulation factor IX mutations in Chinese hemophilia B patients
2个月前
已完结
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study
3个月前
已完结
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder
3个月前
已完结
Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report
5个月前
已完结
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes
5个月前
已关闭
Fatal encephalopathy and congenital heart defects with MEF2C‐related disorder
5个月前
已关闭
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