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  • × Orphanet Journal of Rare Disease
  • × Genotype
 全选  【符合条件的数据共：25条】

1 Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Anne De Paepe;Michael Bjorn Petersen;Sheela Nampoothiri;等

关键词:Phenotype;Genotype;...

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2 In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Terry GJ Derks;Dirk-Jan Reijngoud;Albert Gerding;等

关键词:Phenylpropionic acid;Fasting;...

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3 Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Francjan J van Spronsen;M Rebecca Heiner-Fokkema;Nenad Blau;等

关键词:Loading test;Genotype;...

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4 Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Christine Bodemer;Anne M De Paepe;Paul J Coucke;等

关键词:Phenotype;Genotype;...

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5 Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Christine Bodemer;Anne M De Paepe;Paul J Coucke;等

关键词:Phenotype;Genotype;...

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6 Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Anne De Paepe;Michael Bjorn Petersen;Sheela Nampoothiri;等

关键词:Phenotype;Genotype;...

预览  |  原文链接  |  全文  [ 浏览：5 下载：0  ]