Lv4
730 积分 2023-12-05 加入
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations
3天前
已关闭
Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India
4天前
已完结
Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations
17天前
已完结
Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies
22天前
已完结
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
23天前
已完结
X-Linked Retinoschisis
23天前
已完结
Nagashima‐type palmoplantar keratosis patients harboring SERPINB7 and SERPINA12 variants
25天前
已完结
Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing
1个月前
已完结
A Novel Missense Mutation in Codon 218 of the Albumin Gene in a Distinct Phenotype of Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Kindred
1个月前
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Epidermolysis Bullosa Pruriginosa Treated With Upadacitinib
1个月前
已关闭
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