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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
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
Tổng số: 1,748
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