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肌萎缩侧索硬化诊断和治疗中国专家共识2022
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Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
24天前
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Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations
28天前
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Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta
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Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta
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Loss of Heterozygosity in BRCA1 and BRCA2 Genes in Patients with Ovarian Cancer and Probability of Its Use for Clinical Classification of Variations
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Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta
1个月前
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Clinical and genetic findings of individuals tested using the navigateAPDS genetic testing program
2个月前
已完结