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20 积分 2026-01-10 加入
A nationwide survey of Schaaf-Yang syndrome in Japan
21天前
已完结
Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review
21天前
已完结
Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review
21天前
已完结
Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia
22天前
已完结
Structure of the Human Type IV Collagen Gene COL4A3 and Mutations in Autosomal Alport Syndrome
28天前
已完结
Neonatal Cytomegalovirus Palatal Ulceration and Bocavirus Pneumonitis Associated With a Defect of Lymphocyte Cytotoxicity Caused by Mutations in UNC13D
1个月前
已完结
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
1个月前
已完结
Perinatal palliative care for family with prenatal diagnosis of Matthew‐Wood syndrome
2个月前
已完结
Ophthalmic findings in Alström syndrome
2个月前
已完结
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling
2个月前
已完结
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