Søgeresultater - Audrey Smith
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Critical aortic stenosis in early infancy af Maurice P. Leung, Roxane McKay, Audrey Smith, Robert H. Anderson, Robert Arnold
Udgivet 1991Artigo -
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Performance of Antigens Used in Detecting Delayed-Type Hypersensitivity in Adolescents Infected with the Human Immunodeficiency Virus af Rogers, Audrey Smith, Ellenberg, Jonas H., Douglas, Steven D., Henry-Reid, Lisa, Peralta, Ligia, Wilson, Craig M.
Udgivet 2001Text -
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Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation af Shawn Yost, Bas de Wolf, Sandra Hanks, Anna Zachariou, Chiara Marcozzi, Matthew Clarke, Richarda M. de Voer, Banafsheh Etemad, Esther C. H. Uijttewaal, Emma Ramsay, Harriet Wylie, Anna Elliott, Susan Picton, Audrey Smith, Sarah Smithson, Sheila Seal, Elise Ruark, Gunnar Houge, Jonathon Pines, Geert J.P.L. Kops, Nazneen Rahman
Udgivet 2017Artigo -
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‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service af Hannah McInnes‐Dean, Rhiannon Mellis, Morgan Daniel, Holly Walton, Emma L. Baple, Marta Bértoli, Jane Fisher, Katarzyna Gajewska‐Knapik, Muriel Holder‐Espinasse, Caroline Lafarge, Kerry Leeson‐Beevers, Alec McEwan, Pranav Pandya, Michael Parker, Sophie Peet, Lauren Roberts, Srividhya Sankaran, Audrey Smith, Dagmar Tapon, Wing Han Wu, Sarah L. Wynn, Lyn S. Chitty, Melissa Hill, Michelle Peter
Udgivet 2024Artigo -
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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study af Katherine Schon, Rita Horváth, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibáñez, Thiloka Ratnaike, Robert D. S. Pitceathly, Enrico Bugiardini, Rosaline C. M. Quinlivan, Michael G. Hanna, Emma Clement, Emma Ashton, John A. Sayer, Paul M. Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah Smithson, Richard Festenstein, Natalie Canham, Mark J. Caulfield, Henry Houlden, Shamima Rahman, Patrick F. Chinnery
Udgivet 2021Artigo -
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families af 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
Udgivet 2015Artigo -
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum af Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai
Udgivet 2011Artigo -
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Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome af Lynette G. Sadleir, Emily Mountier, Deepak Gill, Suzanne L. Davis, Charuta Joshi, Catherine DeVile, Manju A. Kurian, Simone Mandelstam, Elaine Wirrell, Katherine Nickels, Hema Murali, Gemma L. Carvill, Candace T. Myers, Heather C. Mefford, Ingrid E. Scheffer, A. Paul Bevan, Abhijit Dixit, Abigail Pridham, Adrian R. Tivey, Ajoy Sarkar, Alan Donaldson, Alan Fryer, Alejandro Sifrim, Alex Henderson, Alex Magee, Alexis E. Duncan, Alison Kraus, Alison Male, Alison Ross, Amanda Collins, Anand Saggar, Andrea Coates, Andrea H. Németh, Andrew E. Fry, Andrew Green, A. Jackson, Andrew Norman, Angela Barnicoat, Angela Brady, Angela Douglas, Angus Clarke, Angus Dobbie, Ann Selby, Anna Middleton, Anne Lampe, A Seller, Annie Procter, Karenza Evans, Anthony Vandersteen, Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba, Becky Treacy, Beiyuan Fu, Ben Hutton, Birgitta Bernhard, Bronwyn Kerr, Bruce Castle, Carina Donnelly, Carol Gardiner, Clare L. Scott, Carole Brewer, Caroline F. Wright, Caroline Langman, Caroline Mackie Ogilvie, Caroline Pottinger, Carolyn Tysoe, Cat Taylor, Catherine McWilliam, Charles Shaw‐Smith, Charu Deshpande, Cheryl Longman, Cheryl Sequeira, Chirag Patel, Chris Bennett, Chris Nellåker, Christopher Wragg, Claire Kirk, Claire Turner, Daniel A. King, Daniel M. Barrett, Daniel Perrett, Daniela T. Pilz, Danielle Walker, David Baty, David Bohanna, David Bourn, David Goudie, David J. Bunyan, David Jones, David Moore, David Fitzpatrick, David Fitzpatrick, Debbie Rice, Debbie Shears, Deirdre Cilliers, Deirdre Donnelly, Denise Williams, Derek Lim
Udgivet 2017Artigo
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Biology
Medicine
Gene
Genetics
Internal medicine
Mutation
Anatomy
Cardiology
Environmental health
Pediatrics
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Aorta
Artery
Cohort
Ecology
Exome
Exome sequencing
Genetic heterogeneity
Genetic testing
Left coronary artery
Missense mutation
Pathology
Phenotype
Pulmonary Trunk
Pulmonary artery
Trunk
Adrenarche
Aneuploidy
Aortic valve
Ascending aorta