অনুসন্ধান ফলাফলগুলি - James W. Whitworth
- প্রদর্শন 1 - 7 ফলাফল এর 7
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Multilocus Inherited Neoplasia Alleles Syndrome অনুযায়ী James W. Whitworth, Anne‐Bine Skytte, Lone Sunde, Derek Lim, Mark J. Arends, Lisa Happerfield, Ian M. Frayling, Rick van Minkelen, Emma R. Woodward, Marc Tischkowitz, Eamonn R. Maher
প্রকাশিত 2015Revisão -
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<scp>SDHA</scp> related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity অনুযায়ী Ruth Casey, David B. Ascher, Eleanor Rattenberry, Louise Izatt, Katrina Andrews, Helen Simpson, Benjamen G Challis, Soo‐Mi Park, V.R. Bulusu, Fiona Lalloo, Douglas E. V. Pires, Hannah D. West, Graeme R. Clark, Philip Smith, James W. Whitworth, Thomas Papathomas, Phillipe Taniere, Rosina Savisaar, Laurence D. Hurst, Emma R. Woodward, Eamonn R. Maher
প্রকাশিত 2017Artigo -
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Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma a... অনুযায়ী Mariam Jafri, James W. Whitworth, Eleanor Rattenberry, Lindsey Vialard, Gail Kilby, Ajith Kumar, Louise Izatt, Fiona Lalloo, Paul Brennan, Jackie Cook, Patrick J. Morrison, Natalie Canham, Ruth Armstrong, Carole Brewer, Susan Tomkins, Alan Donaldson, Julian Barwell, Trevor Cole, A. Brew Atkinson, Simon Aylwin, Steve Ball, Umasuthan Srirangalingam, Shern L. Chew, D. Gareth Evans, Shirley V. Hodgson, Richard Irving, Emma R. Woodward, Fiona MacDonald, Eamonn R. Maher
প্রকাশিত 2012Artigo -
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families অনুযায়ী Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles
প্রকাশিত 2015Artigo -
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Whole-genome sequencing of patients with rare diseases in a national health system অনুযায়ী Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter H. Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noémi Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James W. Whitworth, Sean Humphray, David Bentley, Nathalie Kingston, Neil Walker, John R. Bradley, Sofie Ashford, Christopher J. Penkett, Kathleen Freson, Kathleen Stirrups, F. Lucy Raymond, Willem H. Ouwehand
প্রকাশিত 2021Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Medicine
Biology
Gene
Genetics
Bioinformatics
Internal medicine
Mendelian inheritance
Mutation
Pathology
Phenotype
Clinical psychology
Computational biology
Disease
Exome sequencing
Genetic heterogeneity
Genetic testing
Genotype
Germline mutation
Penetrance
Proband
Psychiatry
Psychology
Allele
Allelic heterogeneity
Cancer
DNA sequencing
Depressed mood
Depression (economics)
Economics
Endocrinology