Lv2
150 积分 2023-09-08 加入
Neurology of the cryopyrin‐associated periodic fever syndrome
7天前
已完结
Prenatal Diagnosis and Novel Therapeutics in Treatment of Genetic Conditions: Challenges and Opportunities
7天前
已完结
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
10天前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
14天前
已完结
Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins
16天前
已完结
Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria
16天前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
17天前
已完结
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain
22天前
已完结
Registry‐Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders
1个月前
已完结
Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5‐Year Update
1个月前
已完结
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