Lv2
108 积分 2022-06-21 加入
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes
28天前
已完结
Structural and functional exploration of three newly identified coagulation factor IX mutations in Chinese hemophilia B patients
1个月前
已完结
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study
1个月前
已完结
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder
2个月前
已完结
Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report
3个月前
已完结
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes
3个月前
已关闭
Fatal encephalopathy and congenital heart defects with MEF2C‐related disorder
4个月前
已关闭
Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency
4个月前
已完结
Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy
6个月前
已完结
Late-onset MADD in Yemen caused by a novel ETFDH mutation misdiagnosed as ADEM
7个月前
已关闭
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