Search Results - Michael Field
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Journalists at risk: News media perspectives by Brent Edwards, Michael Field, Cameron Bennett, Jon Stephenson, David Robie
Published in Pacific Journalism Review (2010-05-01)Get full text
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Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort by Sek Won Kong, In-Hee Lee, Lauren V. Collen, Michael Field, Arjun K. Manrai, Scott B. Snapper, Kenneth D. Mandl
Published in npj Genomic Medicine (2025-02-01)Get full text
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Embedding research into the organisational structure of smaller rural hospitals: building research culture and capacity and understanding perceived rural health workforce benefit by Laura Alston, Dai Pu, Sarah Wood, Michael Field, Hannah Beks, Olivia A. King, Nikita Wheaton, Catherine E. Huggins, Anna Wong Shee, Kevin Mc Namara, Vincent L. Versace
Published in BMC Health Services Research (2025-07-01)Get full text
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PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation by Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger
Published in Disease Models & Mechanisms (2023-04-01)Get full text
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Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability by Alba Sanchis-Juan, Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, Keren J. Carss, Keren J. Carss, Courtney E. French, Courtney E. French, Olivera Spasic-Boskovic, Joanna Jarvis, Michael Field, F. Lucy Raymond, F. Lucy Raymond, Detelina Grozeva
Published in Frontiers in Genetics (2019-06-01)Get full text
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Macrophage dysfunction initiates colitis during weaning of infant mice lacking the interleukin-10 receptor by Naresh S Redhu, Vasudevan Bakthavatchalu, Evan A Conaway, Dror S Shouval, Amy Tsou, Jeremy A Goettel, Amlan Biswas, Chuanwu Wang, Michael Field, Werner Muller, Andre Bleich, Ning Li, Georg K Gerber, Lynn Bry, James G Fox, Scott B Snapper, Bruce H Horwitz
Published in eLife (2017-07-01)Get full text
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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. by Barbara D'haene, Catia Attanasio, Diane Beysen, Josée Dostie, Edmond Lemire, Philippe Bouchard, Michael Field, Kristie Jones, Birgit Lorenz, Björn Menten, Karen Buysse, Filip Pattyn, Marc Friedli, Catherine Ucla, Colette Rossier, Carine Wyss, Frank Speleman, Anne De Paepe, Job Dekker, Stylianos E Antonarakis, Elfride De Baere
Published in PLoS Genetics (2009-06-01)Get full text
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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study by Jozef Gecz, Raman Kumar, Roger E Stevenson, Michael Field, Michael J Friez, Susan Sklower Brooks, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Charles E Schwartz
Published in BMJ Open (2016-04-01)Get full text
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Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling... by Jihoon E. Joo, Khalid Mahmood, Romy Walker, Peter Georgeson, Ida Candiloro, Mark Clendenning, Julia Como, Sharelle Joseland, Susan Preston, Lise Graversen, Mathilda Wilding, Michael Field, Michelle Lemon, Janette Wakeling, Helen Marfan, Rachel Susman, Joanne Isbister, Emma Edwards, Michelle Bowman, Judy Kirk, Emilia Ip, Lynne McKay, Yoland Antill, John L. Hopper, Alex Boussioutas, Finlay A. Macrae, Alexander Dobrovic, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan
Published in Clinical Epigenetics (2023-06-01)Get full text
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Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor by Raman Kumar, Elizabeth Palmer, Elizabeth Palmer, Alison E. Gardner, Renee Carroll, Siddharth Banka, Siddharth Banka, Ola Abdelhadi, Dian Donnai, Dian Donnai, Ype Elgersma, Ype Elgersma, Cynthia J. Curry, Alice Gardham, Mohnish Suri, Rishikesh Malla, Lauren Ilana Brady, Mark Tarnopolsky, Dimitar N. Azmanov, Dimitar N. Azmanov, Vanessa Atkinson, Vanessa Atkinson, Michael Black, Michael Black, Gareth Baynam, Lauren Dreyer, Lauren Dreyer, Robin Z. Hayeems, Christian R. Marshall, Gregory Costain, Marja W. Wessels, Julia Baptista, James Drummond, Melanie Leffler, Michael Field, Jozef Gecz, Jozef Gecz
Published in Frontiers in Molecular Neuroscience (2020-02-01)Get full text
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Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics. by Daniel D Buchanan, Kevin Sweet, Musa Drini, Mark A Jenkins, Aung Ko Win, Dallas R English, Michael D Walsh, Mark Clendenning, Diane M McKeone, Rhiannon J Walters, Aedan Roberts, Sally-Ann Pearson, Erika Pavluk, John L Hopper, Michael R Gattas, Jack Goldblatt, Jill George, Graeme K Suthers, Kerry D Phillips, Sonja Woodall, Julie Arnold, Kathy Tucker, Amanda Muir, Michael Field, Sian Greening, Steven Gallinger, Renee Perrier, John A Baron, John D Potter, Robert Haile, Wendy Frankel, Albert de la Chapelle, Finlay Macrae, Christophe Rosty, Neal I Walker, Susan Parry, Joanne P Young
Published in PLoS ONE (2010-07-01)Get full text
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