Lv4
800 积分 2024-05-20 加入
Revisiting pachyonychia congenita: a case-cohort study of 815 patients
7天前
已完结
A large mutational study in pachyonychia congenita
7天前
已完结
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8
8天前
已关闭
Sucrase‐isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders
11天前
已完结
Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome
16天前
已完结
Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria
17天前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
25天前
已完结
Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene
26天前
已关闭
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up
1个月前
已完结
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing
1个月前
已完结
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