Lv5
1170 积分 2024-02-29 加入
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2天前
已完结
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development
1个月前
已完结
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss
1个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype
1个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
1个月前
已完结
[Features of clinical phenotype and genotype in Alport syndrome: a monocentric study]
2个月前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
3个月前
已完结
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI
4个月前
已完结
Mutations in TITF-1 are associated with benign hereditary chorea
5个月前
已完结
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