Výsledky vyhledávání - Andrew Read
- Zobrazuji výsledky 1 - 20 z 20
-
1
Waardenburg syndrome. Autor Andrew Read, Valerie Newton
Vydáno 1997Revisão -
2
-
3
Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. Autor D Donnai, Andrew Read, C McKeown, Tony Andrews
Vydáno 1988Artigo -
4
Molecular basis of splotch and Waardenburg Pax-3 mutations. Autor Georges Chalepakis, Martyn Goulding, Andrew Read, T Strachan, Peter Gruß
Vydáno 1994Artigo -
5
-
6
-
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 Autor Ying Xiao, Andrew Read, Frédéric Nicodème, Sabine Roman, P. J. Kahrilas, John E. Pandolfino
Vydáno 2012Artigo -
8
-
9
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa Autor Mayada Tassabehji, Kay Metcalfe, Jane A. Hurst, Gillian S. Ashcroft, Cay M. Kielty, Carrie M. Wilmot, Dian Donnai, Andrew Read, Carolyn Jones
Vydáno 1998Artigo -
10
-
11
Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes Autor Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith, Martin J. Carette, Julia D. Grant, N R Dennis, William Reardon, Miranda Splitt, Andrew Read, D Donnai
Vydáno 1999Artigo -
12
A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies Autor Nadège Bondurand, Kirsten Kuhlbrodt, Véronique Pingault, Janna Enderich, M. Sajus, Niels Tommerup, Mette Warburg, Raoul C. M. Hennekam, Andrew Read, Michael Wegner, Michel Goossens
Vydáno 1999Artigo -
13
Artificial intelligence and machine learning for early detection and diagnosis of colorectal cancer in sub-Saharan Africa Autor 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
Vydáno 2022Revisão -
14
Elastin: mutational spectrum in supravalvular aortic stenosis Autor 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
Vydáno 2000Artigo -
15
Characterization of Virulent West Nile Virus Kunjin Strain, Australia, 2011 Autor 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
Vydáno 2012Artigo -
16
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis Autor 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
Vydáno 1999Artigo -
17
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice Autor 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
Vydáno 2021Artigo -
18
Genetic testing and common disorders in a public health framework Autor 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
Vydáno 2011Artigo -
19
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Autor 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
Vydáno 2011Revisão -
20
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis Autor 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
Vydáno 2004Artigo
Vyhledávací nástroje:
Související témata
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