Lv2
160 积分 2025-09-23 加入
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
2个月前
已完结
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
2个月前
已完结
Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome
3个月前
已完结
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients
4个月前
已完结
Phenotypic and genotypic characteristics of children with Bartter syndrome
4个月前
已完结
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
4个月前
已完结
Spectrum of Mutations in Gitelman Syndrome
4个月前
已关闭
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
4个月前
已完结
Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias
5个月前
已完结
Exceptional Response of Pancreatic Acinar Cell Carcinoma and Bile Duct Cancer to Platinum-Based Chemotherapy in a Family With a Germline BRCA2 Variant
5个月前
已完结
皖公网安备34019202002308
