Resultats de la cerca - Andrew Read

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  1. 1
    Waardenburg syndrome.

    Waardenburg syndrome. per Andrew Read, Valerie Newton

    Publicat 1997
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  2. 2
    Norrie disease resulting from a gene deletion: clinical features and DNA studies.

    Norrie disease resulting from a gene deletion: clinical features and DNA studies. per Dian Donnai, R. Mountford, Andrew Read

    Publicat 1988
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  3. 3
    Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

    Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. per D Donnai, Andrew Read, C McKeown, Tony Andrews

    Publicat 1988
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  4. 4
    Molecular basis of splotch and Waardenburg Pax-3 mutations.

    Molecular basis of splotch and Waardenburg Pax-3 mutations. per Georges Chalepakis, Martyn Goulding, Andrew Read, T Strachan, Peter Gruß

    Publicat 1994
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  5. 5
    Mutations in PAX1 may be associated with Klippel–Feil syndrome

    Mutations in PAX1 may be associated with Klippel–Feil syndrome per Julie McGaughran, Andrew C. Oates, Dian Donnai, Andrew Read, Mayada Tassabehji

    Publicat 2003
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  6. 6
    The impact of oral health on the quality of life of nursing home residents

    The impact of oral health on the quality of life of nursing home residents per Jessie Porter, Antiopi Ntouva, Andrew Read, Mandy Murdoch, Dennis Ola, Georgios Tsakos

    Publicat 2015
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  7. 7
    The effect of a sitting <i>vs</i> supine posture on normative esophageal pressure topography metrics and Chicago Classification diagnosis of esophageal motility disorders

    The effect of a sitting <i>vs</i> supine posture on normative esophageal pressure topography metrics and Chicago Classification diagnosis of esophageal motility disorders per Ying Xiao, Andrew Read, Frédéric Nicodème, Sabine Roman, P. J. Kahrilas, John E. Pandolfino

    Publicat 2012
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  8. 8
    Apparent prevention of neural tube defects by periconceptional vitamin supplementation.

    Apparent prevention of neural tube defects by periconceptional vitamin supplementation. per R. W. Smithells, S Sheppard, C J Schorah, Mary J. Seller, N. C. Nevin, R Harris, Andrew Read, D W Fielding

    Publicat 1981
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  9. 9
    An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

    An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa per Mayada Tassabehji, Kay Metcalfe, Jane A. Hurst, Gillian S. Ashcroft, Cay M. Kielty, Carrie M. Wilmot, Dian Donnai, Andrew Read, Carolyn Jones

    Publicat 1998
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  10. 10
    TRPA1 Mediates the Inflammatory Actions of Environmental Irritants and Proalgesic Agents

    TRPA1 Mediates the Inflammatory Actions of Environmental Irritants and Proalgesic Agents per Diana M. Bautista, S.E. Jordt, Tetsuro Nikai, Pamela R. Tsuruda, Andrew Read, Jeannie Poblete, Ebenezer N. Yamoah, Allan I. Basbaum, David Julius

    Publicat 2006
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  11. 11
    Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

    Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes per Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith, Martin J. Carette, Julia D. Grant, N R Dennis, William Reardon, Miranda Splitt, Andrew Read, D Donnai

    Publicat 1999
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  12. 12
    A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

    A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies per Nadège Bondurand, Kirsten Kuhlbrodt, Véronique Pingault, Janna Enderich, M. Sajus, Niels Tommerup, Mette Warburg, Raoul C. M. Hennekam, Andrew Read, Michael Wegner, Michel Goossens

    Publicat 1999
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  13. 13
    Artificial intelligence and machine learning for early detection and diagnosis of colorectal cancer in sub-Saharan Africa

    Artificial intelligence and machine learning for early detection and diagnosis of colorectal cancer in sub-Saharan Africa per Akbar K. Waljee, Eileen M Weinheimer-Haus, Amina Abubakar, Anthony Ngugi, Geoffrey Siwo, Gifty Kwakye, Amit G. Singal, Arvind Rao, Sameer D. Saini, Andrew Read, Akbar K. Waljee, Ulysses J. Balis, Christopher Kenneth Opio, Ji Zhu, Mansoor N. Saleh

    Publicat 2022
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  14. 14
    Elastin: mutational spectrum in supravalvular aortic stenosis

    Elastin: mutational spectrum in supravalvular aortic stenosis per Kay Metcalfe, Agnes K Rucka, Leslie Smoot, Guenter Hofstadler, Gerald Tuzler, Pascal McKeown, Victoria Mok Siu, Anita Rauch, John Dean, N R Dennis, Ian O. Ellis, William Reardon, Cheryl Cytrynbaum, Lucy R. Osborne, John R.W. Yates, Andrew Read, Dian Donnai, Mayada Tassabehji

    Publicat 2000
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  15. 15
    Characterization of Virulent West Nile Virus Kunjin Strain, Australia, 2011

    Characterization of Virulent West Nile Virus Kunjin Strain, Australia, 2011 per Melinda Frost, Jing Zhang, Judith H. Edmonds, Natalie A. Prow, Xingnian Gu, Rodney J. Davis, Christine Hornitzky, Kathleen E. Arzey, Deborah S. Finlaison, Paul Hick, Andrew Read, Jody Hobson‐Peters, Fiona J. May, Stephen L. Doggett, John Haniotis, Richard C. Russell, Roy A. Hall, Alexander A. Khromykh, Peter D. Kirkland

    Publicat 2012
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  16. 16
    Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

    Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis per Carmel Toomes, Jacqueline A. James, Andrew J. Wood, Chu Wu, D. McCormick, Nicholas Lench, Chelsee Hewitt, Leanne Moynihan, Emma Roberts, C. Geoffrey Woods, Alexander F. Markham, Melanie Wong, Richard P Widmer, Khaled Abdel Ghaffar, Michael Pemberton, Ibtessam R. Hussein, Samia A. Temtamy, Robin Davies, Andrew Read, Philip Sloan, Michael J. Dixon, Nalin Thakker

    Publicat 1999
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  17. 17
    The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

    The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice per Francesca Forzano, Olga Antonova, Angus Clarke, Guido de Wert, Sabine Hentze, Yalda Jamshidi, Yves Moreau, Markus Perola, Inga Prokopenko, Andrew Read, Alexandre Reymond, Vigdís Stefànsdóttir, Carla van El, Maurizio Genuardi, Borut Peterlin, Carla Oliveíra, Karin Writzl, Gunnar Houge, Christophe Cordier, Heidi Howard, Milan Maçek, Béla Melegh, Álvaro Mendes, Dragica Radojković, Emmanuelle Rial‐Sebbag, Fiona Ulph, Yalda Jamshidi

    Publicat 2021
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  18. 18
    Genetic testing and common disorders in a public health framework

    Genetic testing and common disorders in a public health framework per Martina C. Cornel, Frauke Becker, Carla van El, Dolores Ibarreta, Eleni Zika, Stuart Hogart, Anne Cambon‐Thomsen, Jean‐Jacques Cassiman, Gerry Evers‐Kiebooms, Shirley V. Hodgson, A. Cecile J.W. Janssens, Helena Kääriäinen, Michael Krawczak, Ulf Kristoffersson, Jan Lubiński, Christine Patch, Víctor B. Penchaszadeh, Andrew Read, Wolf Rogowski, Jorge Sequeiros, Lisbeth Tranebjærg, Irene M. van Langen, Helen M. Wallace, Ron Zimmern, Jörg Schmidtke

    Publicat 2011
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  19. 19
    Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

    Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities per Frauke Becker, Carla van El, Dolores Ibarreta, Eleni Zika, Stuart Hogarth, Pascal Borry, Anne Cambon‐Thomsen, Jean Jacques Cassiman, Gerry Evers‐Kiebooms, Shirley Hodgson, A. Cecile J.W. Janssens, Helena Kääriäinen, Michael Krawczak, Ulf Kristoffersson, Jan Lubiński, Christine Patch, Víctor B. Penchaszadeh, Andrew Read, Wolf Rogowski, Jorge Sequeiros, Lisbeth Tranebjærg, Irene M. van Langen, Helen M. Wallace, Ron Zimmern, Jörg Schmidtke, Martina C. Cornel

    Publicat 2011
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  20. 20
    The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis

    The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis per Chelsee Hewitt, D. McCormick, Gerard J. Linden, Vito Türk, Igor Štern, Ian J. Wallace, Louise Southern, Liqun Zhang, Rebecca Howard, Pedro Bullón, Melanie Wong, Richard P Widmer, Khaled Abdul Gaffar, Lama Awawdeh, Jim Briggs, Reza Yaghmai, Ethylin Wang Jabs, Peter H. Hoeger, O. Bleck, Stefan G. Rüdiger, Gregor Petersilka, Maurizio Battino, Peter Brett, Faiez N. Hattab, Mohamed H. Al‐Hamed, Philip Sloan, Carmel Toomes, Mike J. Dixon, Jacqueline A. James, Andrew Read, Nalin Thakker

    Publicat 2004
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