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120 积分 2025-08-06 加入
Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives
2天前
已关闭
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion
2天前
已完结
Prevalence of Otitis Media and Eustachian Tube Dysfunction in Adults With Hidradenitis Suppurativa
2天前
已完结
A Chinese Patient With Alopecia‐Intellectual Disability Syndrome 4 Carrying a Known Missense Variant of LSS Gene and an Unreported Gross Deletion Involving LSS Gene
1个月前
已完结
A mixed longitudinal study of physical growth in children with atopic dermatitis
2个月前
已完结
Association Between Atopic Dermatitis and Height, Body Mass Index, and Weight in Children
2个月前
已完结
A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type
2个月前
已完结
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
2个月前
已完结
[Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene]
2个月前
已完结
Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR
2个月前
已完结
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