Kết quả tìm kiếm - Andrew Read
- Đang hiển thị 1 - 20 kết quả của 20
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1
Waardenburg syndrome. Bằng Andrew Read, Valerie Newton
Được phát hành 1997Revisão -
2
Norrie disease resulting from a gene deletion: clinical features and DNA studies. Bằng Dian Donnai, R. Mountford, Andrew Read
Được phát hành 1988Artigo -
3
Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. Bằng D Donnai, Andrew Read, C McKeown, Tony Andrews
Được phát hành 1988Artigo -
4
Molecular basis of splotch and Waardenburg Pax-3 mutations. Bằng Georges Chalepakis, Martyn Goulding, Andrew Read, T Strachan, Peter Gruß
Được phát hành 1994Artigo -
5
Mutations in PAX1 may be associated with Klippel–Feil syndrome Bằng Julie McGaughran, Andrew C. Oates, Dian Donnai, Andrew Read, Mayada Tassabehji
Được phát hành 2003Artigo -
6
The impact of oral health on the quality of life of nursing home residents Bằng Jessie Porter, Antiopi Ntouva, Andrew Read, Mandy Murdoch, Dennis Ola, Georgios Tsakos
Được phát hành 2015Artigo -
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 Bằng Ying Xiao, Andrew Read, Frédéric Nicodème, Sabine Roman, P. J. Kahrilas, John E. Pandolfino
Được phát hành 2012Artigo -
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An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa Bằng Mayada Tassabehji, Kay Metcalfe, Jane A. Hurst, Gillian S. Ashcroft, Cay M. Kielty, Carrie M. Wilmot, Dian Donnai, Andrew Read, Carolyn Jones
Được phát hành 1998Artigo -
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Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes Bằng Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith, Martin J. Carette, Julia D. Grant, N R Dennis, William Reardon, Miranda Splitt, Andrew Read, D Donnai
Được phát hành 1999Artigo -
12
A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies Bằng Nadège Bondurand, Kirsten Kuhlbrodt, Véronique Pingault, Janna Enderich, M. Sajus, Niels Tommerup, Mette Warburg, Raoul C. M. Hennekam, Andrew Read, Michael Wegner, Michel Goossens
Được phát hành 1999Artigo -
13
Artificial intelligence and machine learning for early detection and diagnosis of colorectal cancer in sub-Saharan Africa Bằng 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
Được phát hành 2022Revisão -
14
Elastin: mutational spectrum in supravalvular aortic stenosis Bằng 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
Được phát hành 2000Artigo -
15
Characterization of Virulent West Nile Virus Kunjin Strain, Australia, 2011 Bằng 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
Được phát hành 2012Artigo -
16
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis Bằng 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
Được phát hành 1999Artigo -
17
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice Bằng 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
Được phát hành 2021Artigo -
18
Genetic testing and common disorders in a public health framework Bằng 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
Được phát hành 2011Artigo -
19
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Bằng 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
Được phát hành 2011Revisão -
20
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis Bằng 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
Được phát hành 2004Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Genetics
Gene
Medicine
Internal medicine
Mutation
Phenotype
Pathology
Dermatology
Disease
Elastin
Genetic testing
Missense mutation
Mutant
Psychology
Transcription factor
Waardenburg syndrome
Anatomy
Artificial intelligence
Audiology
Biochemistry
Cathepsin
Cathepsin C
Cell biology
Cognition
Computer science
DNA
Enzyme
Haploinsufficiency
Hearing loss