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7篇 您的检索式:作者名="Madeo AC"
    题名 作者 年代 出处 被引量
1SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA) : Evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities显示文摘Pryor SP Madeo AC Reynolds JC 2005J Med Genet2005,42,:1
2SLC26A4/PDS genotype-- phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non syndromic EVA are distinct clinical and genetic entities显示文摘Pryor SP Madeo AC Reynolds JC 2005J Med Genet2005,42,:1
3Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4:evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain显示文摘Makishima T Madeo AC Brewer CC Zalewski CK Butman JA Sachdev V Arai AE Holbrook BM Rosing DR Griffith AJ 0,,:1
4Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct : genotype-phenotype correlation or coin- cidental polymorphisms? 显示文摘Choi BY Stewart AK Madeo AC 2009Hum Mutat2009,30,4:1
5Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes显示文摘Schultz JM Bhatti R Madeo AC 0,,11:1
6SLC26A4/PDS genotype--phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non--syndromic EVA are distinct clinical and genetic entities显示文摘Pryor SP Madeo AC Reynolds JC 2005J Med Genet2005,42,:1
7Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4:evidence for corre- lation of normal cardiac phenotype with truncating mutations of the Eya domain显示文摘Makishima T Madeo AC Brewer CC 2007American Journal of Medical Genetics Part A2007,,:1
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