Showing 1 - 14 results of 14 for search 'R. Fitzpatrick', query time: 0.03s
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Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data by C. F. Wright, E. Prigmore, D. Rajan, J. Handsaker, J. McRae, J. Kaplanis, T. W. Fitzgerald, D. R. FitzPatrick, H. V. Firth, M. E. Hurles
Published 2022-09-01
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Electron paramagnetic resonance as a tool to determine the sodium charge storage mechanism of hard carbon by Bin Wang, Jack R. Fitzpatrick, Adam Brookfield, Alistair J. Fielding, Emily Reynolds, Jake Entwistle, Jincheng Tong, Ben F. Spencer, Sara Baldock, Katherine Hunter, Christopher M. Kavanagh, Nuria Tapia-Ruiz
Published 2024-04-01
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Robust Genetic Analysis of the X-Linked Anophthalmic (<i>Ie</i>) Mouse by Brianda A. Hernandez-Moran, Andrew S. Papanastasiou, David Parry, Alison Meynert, Philippe Gautier, Graeme Grimes, Ian R. Adams, Violeta Trejo-Reveles, Hemant Bengani, Margaret Keighren, Ian J. Jackson, David J. Adams, David R. FitzPatrick, Joe Rainger
Published 2022-10-01
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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. by Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick
Published 2022-01-01
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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia by Hildegard Nikki Hall, Hemant Bengani, Robert B. Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A. Marsh, Graeme R. Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M. Mannens, Veronica Van Heyningen, Joe Rainger, Brian P. Brooks, David R. FitzPatrick
Published 2022-01-01
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Recommendations for clinical interpretation of variants found in non-coding regions of the genome by Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin
Published 2022-07-01
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Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features by Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Published 2024-04-01
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