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40 积分 2025-07-28 加入
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population
2个月前
已完结
Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica
2个月前
已完结
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
4个月前
已完结
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum
8个月前
已完结
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity
8个月前
已完结