Lv2
190 积分 2025-04-29 加入
Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches
2天前
已完结
Genotype–phenotype correlation in children with hereditary spherocytosis
1个月前
已完结
Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans
2个月前
已完结
Iron overload in three generations of a family with Hemoglobin Olympia
2个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
3个月前
已完结
Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss
4个月前
已完结
Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey
4个月前
已关闭
TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy
4个月前
已完结
[Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening]
4个月前
已完结
Effect of inbreeding on intellectual disability revisited by trio sequencing
10个月前
已完结
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