Sökresultat med upphovsmän :: APM

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8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH av John Barber, Viv Maloney, Shuwen Huang, David J. Bunyan, Lara Cresswell, Esther Kinning, Anna Benson, Tim Cheetham, Jonathan Wyllie, Sally Ann Lynch, Simon Zwolinski, Laura Prescott, Yanick J. Crow, R. Morgan, Emma Hobson

Publicerad 2007

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Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype av Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite, Murray Feingold, Pamela Brock, Gordon C. Gowans, Pradeep Vasudevan, Lara Cresswell, Emma‐Jane Taylor, Civonnia Harris, Neil Friedman, Rocio Moran, Holly Feret, Elaine H. Zackai, Aaron Theisen, Jill A. Rosenfeld, Michael Parker

Publicerad 2011

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Molecular profiling reveals primary mesothelioma cell lines recapitulate human disease av Tatiana A. Chernova, Xiaoming Sun, Ian R. Powley, Sara Galavotti, Stefano Grosso, Fiona Murphy, Gareth J. Miles, Lara Cresswell, Alexey V. Antonov, J.A. Bennett, Apostolos Nakas, David Dinsdale, Kelvin Cain, Martin Bushell, Anne E. Willis, Marion MacFarlane

Publicerad 2016

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study av Lord J, McMullan DJ, Eberhardt RY, G. Rinck, SJ Hamilton, E Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Best SK, Carey GK, Rhiannon Mellis, Sarah Robart, I. Berry, Chandler Ke, Deirdre Cilliers, Lara Cresswell, Edwards Sl, Chris Gardiner, Alex Henderson, Holden ST, Tessa Homfray, Tracy Lester, Lewis Ra, Ruth Newbury‐Ecob, Katrina Prescott, OW Quarrell, Ramsden Sc, E. Roberts, Dagmar Tapon, Tooley MJ, Vasudevan PC, Weber Ap, Wellesley DG, Paul Westwood, HE White, Michael Parker, Denise Williams, Letreyona Jenkins, Scott Rh, Kilby MD, Chitty LS, ME Hurles, ER Maher

Publicerad 2019

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study av Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt, Gabriele Rinck, Susan Hamilton, E Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna Best, Georgina K. Carey, Rhiannon Mellis, Sarah Robart, Ian Berry, Kate Chandler, Deirdre Cilliers, Lara Cresswell, Sandra L. Edwards, Carol Gardiner, Alex Henderson, Simon Holden, Tessa Homfray, Tracy Lester, Rebecca Lewis, Ruth Newbury‐Ecob, Katrina Prescott, Oliver Quarrell, Simon Ramsden, Eileen Roberts, Dagmar Tapon, Madeleine Tooley, Pradeep Vasudevan, Astrid Weber, Diana Wellesley, Paul Westwood, Helen White, Michael Parker, Denise Williams, Lucy Jenkins, Richard H. Scott, Mark D. Kilby, Lyn S. Chitty, Matthew E. Hurles, Eamonn R. Maher, Mark S. Bateman, Ian Berry, Sunayna Best, Carolyn Campbell, Jenni Campbell, Georgina K. Carey, Kate Chandler, Lyn S. Chitty, Deirdre Cilliers, Kelly Cohen, Emma Collingwood, P. Constantinou, Lara Cresswell, Catherine Delmege, Ruth Y. Eberhardt, Sandra L. Edwards, Richard J. Ellis, Jerry Evans, Thomas R. Everett, Clare F Pinto, Natalie Forrester, Emma Fowler, Carol Gardiner, Susan Hamilton, Karen Healey, Alex Henderson, Simon Holden, Tessa Homfray, Rebecca Hudson, Matthew E. Hurles, Lucy Jenkins, Rebecca Keelagher, Mark D. Kilby, Tracey Lester, Rebecca Lewis, Jenny Lord, Eamonn R. Maher, Tamás Marton, Dominic McMullan, Sarju Mehta, Rhiannon Mellis, Ruth Newbury‐Ecob, Soo‐Mi Park, Michael Parker, Katrina Prescott, Elena Prigmore, Oliver Quarrell, E Quinlan-Jones, Simon Ramsden, Gabriele Rinck, Sarah Robart, Eileen Roberts, Jayne Rowland, Richard H. Scott, James Steer, Dagmar Tapon, Emma J. Taylor

Publicerad 2019

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Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study av Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian O. Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali

Publicerad 2016

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders av Víctor Faúndes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally Davies, Michelle Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela F. Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson

Publicerad 2017

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8

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia av Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis‐Juan, Keren Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit Pressler, Michael A. Simpson, Geoff Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, J Gordon Millichap, Gemma L. Carvill, Jill Clayton‐Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro

Publicerad 2019

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