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• catalog abstract "Covers the techniques for the diagnosis of the both common and rare inherited conditions. The methods-organized by disease or diagnostic area-are robust and reproducible. They contain not only essential day-to-day benchtop wisdom and instruction, but also offers possibilities for introducing new molecular genetic diagnostic tests, as well as invaluable advice on controls, quality standards, and interpretation. Among the genetic diseases discussed are Duchenne/Becker muscular dystrophy, familial adenomatous polyposis, X-chromosome inactivation, Huntington's disease, fragile X disease, cystic fibrosis, and the hemoglobinopathies.".
• catalog contributor b13041441.
• catalog contributor b13041442.
• catalog created "2004.".
• catalog date "2004".
• catalog date "2004.".
• catalog dateCopyrighted "2004.".
• catalog description "Covers the techniques for the diagnosis of the both common and rare inherited conditions. The methods-organized by disease or diagnostic area-are robust and reproducible. They contain not only essential day-to-day benchtop wisdom and instruction, but also offers possibilities for introducing new molecular genetic diagnostic tests, as well as invaluable advice on controls, quality standards, and interpretation. Among the genetic diseases discussed are Duchenne/Becker muscular dystrophy, familial adenomatous polyposis, X-chromosome inactivation, Huntington's disease, fragile X disease, cystic fibrosis, and the hemoglobinopathies.".
• catalog description "Includes bibliographical references and index.".
• catalog description "Optimizing PCR for clinical diagnosis / M.P. Bulman -- Current and emerging techniques for diagnostic mutation detection: an overview of methods for mutation detection / C.F. Taylor and G.R. Taylor -- Mutation scanning for the clinical laboratory: DHPLC / J.F. Harvey and J.R. Sampson -- Mutation scanning for the clinical laboratory-protein truncation test / Y. Wallis -- Mutation scanning for the clinical laboratory: automated fluorescent sequencing / A.J. Wallace -- Comparative sequence analysis / C. Mattocks, P. Tarpey and J. Whittaker -- Gene dosage analysis by multiplex amplifiable probe hybridization / J.A. Armour ... [et al.] -- Prenatal detection of chromosome aneuploidy by quantitative fluorescence-PCR / K. Mann -- Fragile X disease / V. Biancalana and J. Macpherson -- Huntington's disease / L. Meredith -- Hematological applications: hemoglobinopathies / J.M. Old -- Cystic fibrosis / H. Cuppens, E. Dequeker and J.J. Cassiman -- Familial adenomatous polyposis / F. Macdonald -- Multiple endocrine neoplasia types 1 and 2 / S. Ellard -- Neurofibromatosis type 1: a common familial cancer syndrome / M. Upadhyaya ... [et al.] -- Duchenne and Becker muscular dystrophy / A.L. Kneppers, I.B. Ginjaar and E. Bakker -- Spinal muscular atrophy / H. Scheffer -- Quality management in molecular genetics / E. Voorhoeve, A.L. Kneppers and S. Patton -- Regulation of genetic testing in clinical practice / U. Kristoffersson.".
• catalog extent "x, 287 p. :".
• catalog identifier "0896039323 (alk. paper)".
• catalog isPartOf "Methods in molecular medicine ; 92".
• catalog issued "2004".
• catalog issued "2004.".
• catalog language "eng".
• catalog publisher "Totowa, NJ : Humana Press,".
• catalog subject "616/.042 21".
• catalog subject "Genetic Diseases, Inborn diagnosis.".
• catalog subject "Genetic Techniques.".
• catalog subject "Genetic Testing".
• catalog subject "Genetic disorders Molecular diagnosis Laboratory manuals.".
• catalog subject "Molecular Diagnostic Techniques.".
• catalog subject "QZ 50 M71835 1996".
• catalog subject "RB155.6 .M65 2003".
• catalog subject "W1 ME9616JM v.92 2004".
• catalog tableOfContents "Optimizing PCR for clinical diagnosis / M.P. Bulman -- Current and emerging techniques for diagnostic mutation detection: an overview of methods for mutation detection / C.F. Taylor and G.R. Taylor -- Mutation scanning for the clinical laboratory: DHPLC / J.F. Harvey and J.R. Sampson -- Mutation scanning for the clinical laboratory-protein truncation test / Y. Wallis -- Mutation scanning for the clinical laboratory: automated fluorescent sequencing / A.J. Wallace -- Comparative sequence analysis / C. Mattocks, P. Tarpey and J. Whittaker -- Gene dosage analysis by multiplex amplifiable probe hybridization / J.A. Armour ... [et al.] -- Prenatal detection of chromosome aneuploidy by quantitative fluorescence-PCR / K. Mann -- Fragile X disease / V. Biancalana and J. Macpherson -- Huntington's disease / L. Meredith -- Hematological applications: hemoglobinopathies / J.M. Old -- Cystic fibrosis / H. Cuppens, E. Dequeker and J.J. Cassiman -- Familial adenomatous polyposis / F. Macdonald -- Multiple endocrine neoplasia types 1 and 2 / S. Ellard -- Neurofibromatosis type 1: a common familial cancer syndrome / M. Upadhyaya ... [et al.] -- Duchenne and Becker muscular dystrophy / A.L. Kneppers, I.B. Ginjaar and E. Bakker -- Spinal muscular atrophy / H. Scheffer -- Quality management in molecular genetics / E. Voorhoeve, A.L. Kneppers and S. Patton -- Regulation of genetic testing in clinical practice / U. Kristoffersson.".
• catalog title "Molecular diagnosis of genetic diseases / edited by Rob Elles and Roger Mountford.".
• catalog type "text".