Որոնման արդյունքները - Eileen Roberts
- Ցուցադրվում են 1 - 3 արդյունքները 3
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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study 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
Հրապարակվել է 2019Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստըArtigo -
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Evidence for 28 genetic disorders discovered by combining healthcare and research data Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer
Հրապարակվել է 2020Ստացեք ամբողջական տեքստըArtigo -
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The contribution of X-linked coding variation to severe developmental disorders Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw‐Smith, Claire Turner, Peter D. Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson
Հրապարակվել է 2021Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստըArtigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Gene
Genetics
Phenotype
Exome
Exome sequencing
Medicine
Aneuploidy
Autism
Bioinformatics
Chromosome
Cohort
Copy-number variation
Developmental disorder
Fetus
Genetic testing
Genome
Intellectual disability
Missense mutation
Mutation
Obstetrics
Pathology
Pregnancy
Prenatal diagnosis
Proband
Psychiatry