Genetics in Medicine

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Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Genetics in Medicine - Tập 20 - Trang 452-457 - 2018
Irene Catucci, Ana Osorio, Brita Arver, Guido Neidhardt, Massimo Bogliolo, Federica Zanardi, Mirko Riboni, Simone Minardi, Roser Pujol, Jacopo Azzollini, Bernard Peissel, Siranoush Manoukian, Giovanna De Vecchi, Stefano Casola, Jan Hauke, Lisa Richters, Kerstin Rhiem, Rita K. Schmutzler, Karin Wallander, Therese Törngren
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
Genetics in Medicine - Tập 19 - Trang 144-156 - 2017
Julia N. Bailey, Christopher Patterson, Laurence de Nijs, Reyna M. Durón, Viet-Huong Nguyen, Miyabi Tanaka, Marco T. Medina, Aurelio Jara-Prado, Iris E. Martínez-Juárez, Adriana Ochoa, Yolli Molina, Toshimitsu Suzuki, María E. Alonso, Jenny E. Wight, Yu-Chen Lin, Laura Guilhoto, Elza Marcia Targas Yacubian, Jesús Machado-Salas, Andrea Daga, Kazuhiro Yamakawa
Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease
Genetics in Medicine - Tập 10 - Trang 758-762 - 2008
Roddy McDowell, Jennifer S. Li, Daniel Kelly Benjamin, Claire Morgan, Alison Becker, Priya S. Kishnani, Ronald J. Kanter
Evaluation of Prenatal Screening Program for Down Syndrome analysis of 96 cases of Down syndrome for last 10 years
Genetics in Medicine - Tập 2 - Trang 109 - 2000
J.Y. Han, M.Y. Kim, H.K. Ahn, J.H. Yanq, H.M. Ryu, J.M. Kim, Y.M. Kim, S.Y. Park, H.K. Han, Y.H. Lee, E.S. Kim
Role of POLE and POLD1 in familial cancer
Genetics in Medicine - Tập 22 - Trang 2089-2100 - 2020
Pilar Mur, Sandra García-Mulero, Jesús del Valle, Lorena Magraner-Pardo, August Vidal, Marta Pineda, Giacomo Cinnirella, Edgar Martín-Ramos, Tirso Pons, Adriana López-Doriga, Sami Belhadj, Lidia Feliubadaló, Pau M. Munoz-Torres, Matilde Navarro, Elia Grau, Esther Darder, Gemma Llort, Judit Sanz, Teresa Ramón y Cajal, Judith Balmana
Genetic Determinants of Sudden Unexpected Death in Pediatrics
Genetics in Medicine - Tập 24 - Trang 839-850 - 2022
Hyun Yong Koh, Alireza Haghighi, Christine Keywan, Sanda Alexandrescu, Erin Plews-Ogan, Elisabeth A. Haas, Catherine A. Brownstein, Sara O. Vargas, Robin L. Haynes, Gerard T. Berry, Ingrid A. Holm, Annapurna H. Poduri, Richard D. Goldstein
Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel
Genetics in Medicine - Tập 24 - Trang 1485-1494 - 2022
D. Gareth R. Evans, Elke M. van Veen, Elaine F. Harkness, Adam R. Brentnall, Susan M. Astley, Helen Byers, Emma R. Woodward, Sarah Sampson, Jake Southworth, Sacha J. Howell, Anthony J. Maxwell, William G. Newman, Jack Cuzick, Anthony Howell
Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis
Genetics in Medicine - Tập 13 Số 7 - Trang 607-616 - 2011
Jamie McDonald, Pinar Bayrak‐Toydemir, Reed E. Pyeritz
A randomized controlled trial of genotype-based Coumadin initiation
Genetics in Medicine - Tập 13 - Trang 509-518 - 2011
James K. Burmester, Richard L. Berg, Steven H. Yale, Carla M. Rottscheit, Ingrid E. Glurich, John R. Schmelzer, Michael D. Caldwell
Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and “personalized” medicine?
Genetics in Medicine - Tập 12 - Trang 785-791 - 2010
Wylie Burke, Hilary Burton, Alison E. Hall, Mohamed Karmali, Muin J. Khoury, Bartha Knoppers, Eric M. Meslin, Fiona Stanley, Caroline F. Wright, Ronald L. Zimmern
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