Lv1
58 积分 2024-05-31 加入
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees
8小时前
已完结
[Clinical phenotypes of TBC1D24 gene related epilepsy]
1个月前
已完结
Hematologic and genetic characterization of an MYH9-related disorder in a Chinese family
1个月前
已完结
DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree
2个月前
已关闭
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
2个月前
已完结
DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree
2个月前
已关闭
Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome
2个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
2个月前
已完结
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
3个月前
已完结
Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study
3个月前
已完结
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