Lv11
68 积分 2026-02-04 加入
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing
24天前
已完结
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN
24天前
已完结
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN
24天前
已完结
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations
1个月前
已完结
Genotype and phenotype distribution of 435 patients with Charcot–Marie–Tooth disease from central south China
1个月前
已完结
Genotype–phenotype correlations of AR‐CMT2S in a cohort of axonal Charcot–Marie–Tooth patients from Central South China
1个月前
已完结
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
2个月前
已关闭
Mutation spectrum of the NF1 gene and genotype–phenotype correlations in Turkish patients: Seventeen novel pathogenic variants
2个月前
已完结
Variable skin findings in two siblings with KDSR mutations manifesting in PERIOPTER syndrome
4个月前
已完结
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review
4个月前
已完结
皖公网安备34019202002308
