Lv31
356 积分 2023-06-28 加入
Genetic diagnosis of dysplasminogenemia: detection of an Ala601-Thr mutation in 118 out of 125 families and identification of a new Asp676-Asn mutation
27天前
已关闭
Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*
3个月前
已关闭
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
3个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
4个月前
已完结
Increased levels of matrix metalloproteinase‐9 and interleukin‐8 in blister fluids of dystrophic and junctional epidermolysis bullosa patients
4个月前
已完结
Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed‐Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype–Phenotype Correlation in Nine Cases
4个月前
已关闭
Temperature‐dependent optical rotatory dispersion properties of helical muscle proteins and homopolymers
4个月前
已完结
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
4个月前
已关闭
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
4个月前
已完结
A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation
4个月前
已完结
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