Lv11
70 积分 2023-09-25 加入
Genetic control of typical and atypical sex development
4小时前
已完结
Application of dHPLC for Mutation Detection of the Fibrillin-1 Gene for the Diagnosis of Marfan Syndrome in a National Health Service Laboratory
1个月前
已关闭
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication
2个月前
已完结
A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1
2个月前
已完结
Variants of aminoacyl‐tRNA synthetase genes in Charcot‐Marie‐Tooth disease: A Korean cohort study
2个月前
已完结
Genotype and phenotype distribution of 435 patients with Charcot–Marie–Tooth disease from central south China
2个月前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
2个月前
已完结
Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia
3个月前
已完结
Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings
3个月前
已完结
A deep intronic BTK variant underlies X-linked agammaglobulinemia
3个月前
已完结
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