Lv2
178 积分 2026-02-04 加入
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
9小时前
已完结
The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes
20天前
已完结
Early onset is an indication of the severity of DADA2 disease
23天前
已完结
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing
2个月前
已完结
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN
2个月前
已完结
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN
2个月前
已完结
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations
3个月前
已完结
Genotype and phenotype distribution of 435 patients with Charcot–Marie–Tooth disease from central south China
3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
3个月前
已完结
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