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26 积分 2023-09-15 加入
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
2天前
已完结
EARLY-ONSET OF FAMILIAL EXUDATIVE VITREORETINOPATHY
2天前
已完结
[Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA]
26天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
1个月前
已完结
Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
1个月前
已完结
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene
1个月前
已关闭
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project
2个月前
已完结
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project
2个月前
已完结
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