Lv1
48 积分 2022-07-04 加入
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
7个月前
已完结
Prenatal diagnosis and genetic counseling of a Chinese family with inherited multiple chromosomal microduplications
7个月前
已完结
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant
7个月前
已完结
Female X-linked Alport syndrome with somatic mosaicism
7个月前
已完结
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta
8个月前
已完结
[Prenatal diagnosis of two fetuses with de novo 46,X,psu dic(Y)/45,X mosaicism]
8个月前
已完结
Exploring the Coexistence of Turner Syndrome and Alopecia Areata: A Scoping Review
8个月前
已完结
ATP1A2‐related epileptic encephalopathy and movement disorder: Clinical features of three novel patients
9个月前
已完结
A case of parathyroid adenoma
9个月前
已关闭
Bi‐allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology
10个月前
已完结
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