Lv22
140 积分 2024-12-05 加入
Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders
5小时前
已完结
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
13天前
已完结
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
21天前
已完结
[A Chinese interpretation for the "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020"]
28天前
已完结
Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India
1个月前
已完结
A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature
1个月前
已完结
Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
1个月前
已完结
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia
1个月前
已完结
Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations
2个月前
已完结
Research advances in the pathogenesis and treatment of neurodegeneration with brain iron accumulation
2个月前
已关闭
皖公网安备34019202002308
