Lv2
170 积分 2025-06-10 加入
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
15小时前
已完结
Prenatal Phenotype of Kabuki Syndrome: Seven Case Series
21天前
已完结
Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families
1个月前
已完结
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome
2个月前
已关闭
Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion
3个月前
已完结
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family
8个月前
已完结
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