Lv4
620 积分 2024-07-16 加入
DSP -palmoplantar epidermal differentiation disorder: a distinct phenotype and red flag for cardiomyopathy
25天前
已关闭
Genotype/phenotype analysis in Chinese laminin‐α2 deficient congenital muscular dystrophy patients
27天前
已完结
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
1个月前
已完结
Novel pathogenic MAN2B2 variants cause systemic lupus erythematosus and dysregulated glycosylation
1个月前
已关闭
Return of genetic research results in 21,532 individuals with autism
1个月前
已完结
Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience
1个月前
已完结
Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing
1个月前
已关闭
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
2个月前
已完结
[Gene variant analysis of a patient with multiple carboxylase deficiency]
3个月前
已完结
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
3个月前
已完结
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