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2021-09-26 加入
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[Clinical and genetic diagnosis of a pedigree affected with autosomal recessive Alport syndrome]
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Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI – Current Developments for the Classifi cation of Variants
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Reinvestigation of unidentified causative variants in FXI‐deficient patients: Focus on gene segment deletions
3个月前
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Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction‐based test to define a whole gene deletion
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Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness
5个月前
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Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness
5个月前
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The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening
5个月前
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Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations
6个月前
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Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
8个月前
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Genome Sequencing and Functional Characterization of Xanthomonas cucurbitae, the Causal Agent of Bacterial Spot Disease of Cucurbits
2年前
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