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 全选  【符合条件的数据共：60条】

1 Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia [期刊论文]

来源：BMC Pediatrics

作者:Sang Ngoc Nguyen;Akihiro Yachie;Ohara Osamu;等

关键词:Bruton disease;Mutation analysis;...

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2 Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene [期刊论文]

来源：BMC Pulmonary Medicine

作者:Paola Melotti;Baroukh Maurice Assael;Mario Buffelli;等

关键词:Cystic fibrosis conductance transmembrane regulator function;Nasal potential difference measurements;...

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3 Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene [期刊论文]

来源：BMC Pulmonary Medicine

作者:Paola Melotti;Baroukh Maurice Assael;Mario Buffelli;等

关键词:Cystic fibrosis conductance transmembrane regulator function;Nasal potential difference measurements;...

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4 BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families [期刊论文]

来源：BMC Medical Genetics

作者:Edvins Miklasevics;Janis Gardovskis;Dagnija Kalniete;等

关键词:Mutation analysis;Hereditary cancer families;...

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5 BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families [期刊论文]

来源：BMC Medical Genetics

作者:Edvins Miklasevics;Janis Gardovskis;Dagnija Kalniete;等

关键词:Mutation analysis;Hereditary cancer families;...

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6 Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies [期刊论文]

来源：BMC Medical Genetics

作者:Øivind Nilssen;Svein I Mellgren;Bjørn Nygård;等

关键词:Guidelines;Clinical neurophysiology;...

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