Genetics in Medicine, 1098-3600

Tidskrift

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  1. 2020
  2. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

    Roddy Walsh, Najim Lahrouchi, Rafik Tadros, Florence Kyndt, Charlotte Glinge, Pieter G. Postema, Ahmad S. Amin, Eline A. Nannenberg, James S. Ware, Nicola Whiffin, Francesco Mazzarotto, Doris Škorić-Milosavljević, Christian Krijger, Elena Arbelo, Dominique Babuty, Hector Barajas-Martinez, Britt M. Beckmann, Stéphane Bézieau, J. Martijn Bos, Jeroen Breckpot & 31 andra, Oscar Campuzano, Silvia Castelletti, Candan Celen, Sebastian Clauss, Anniek Corveleyn, Lia Crotti, Federica Dagradi, Carlo de Asmundis, Isabelle Denjoy, Sven Dittmann, Patrick T. Ellinor, Cristina Gil Ortuño, Carla Giustetto, Jean Baptiste Gourraud, Daisuke Hazeki, Minoru Horie, Taisuke Ishikawa, Hideki Itoh, Yoshiaki Kaneko, Jørgen K. Kanters, Hiroki Kimoto, Maria Christina Kotta, Ingrid P.C. Krapels, Masahiko Kurabayashi, Julieta Lazarte, Antoine Leenhardt, Bart L. Loeys, Catarina Lundin, Takeru Makiyama, Pyotr G. Platonov & Nantes Referral Center for inherited cardiac arrhythmia Nantes Referral Center for inherited cardiac arrhythmia, 2020 sep 7, I : Genetics in Medicine.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 2019
  4. Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

    Alisa Olkinuora, Taina T. Nieminen, Emma Mårtensson, Anna Rohlin, Ari Ristimäki, Laura Koskenvuo, Anna Lepistö, Samuel Gebre-Medhin, Margareta Nordling, Päivi Peltomäki & Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, 2019, I : Genetics in Medicine. 21, 8, s. 1868-1873

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. Sharing data for future research—engaging participants’ views about data governance beyond the original project: a DIRECT Study

    Nisha Shah, Victoria Coathup, Harriet Teare, Ian Forgie, Giuseppe Nicola Giordano, Tue Haldor Hansen, Lenka Groeneveld, Michelle Hudson, Ewan Pearson, Hartmut Ruetten & Jane Kaye, 2019, I : Genetics in Medicine. 21, 5, s. 1131-1138

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. 2018
  7. Phenocopies in melanoma-prone families with germ-line CDKN2A mutations

    Hildur Helgadottir, Håkan Olsson, Margaret A. Tucker, Xiaohong R. Yang, Veronica Höiom & Alisa M. Goldstein, 2018 sep 1, I : Genetics in Medicine. 20, 9, s. 1087-1090 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. PREPL deficiency: Delineation of the phenotype and development of a functional blood assay

    Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A. Jeannette M. Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik Jan Kamsteeg & John W.M. Creemers, 2018 jan 1, I : Genetics in Medicine. 20, 1, s. 109-118 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

    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 & 8 andra, Åke Borg, Paolo Radice, Jordi Surrallés, Eric Hahnen, Hans Ehrencrona, Anders Kvist, Javier Benitez & Paolo Peterlongo, 2018, I : Genetics in Medicine. 20, s. 452–457 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. 2016
  11. Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: A perinatal protocol for use before population neonatal screening test results become available

    Willemijn J. Van Rijt, Emmalie A. Jager, Francjan J. Van Spronsen, Tom De Koning, M. Rebecca Heiner-Fokkema & Terry G.J. Derks, 2016 dec 1, I : Genetics in Medicine. 18, 12, s. 1322-1323 2 s.

    Forskningsoutput: TidskriftsbidragLetter

  12. 2009
  13. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

    Richard G H Cotton, Aida I Al Aqeel, Fahd Al-Mulla, Paola Carrera, Mireille Claustres, Rosemary Ekong, Valentine J Hyland, Finlay A Macrae, Makia J Marafie, Mark H Paalman, George P Patrinos, Ming Qi, Rajkumar S Ramesar, Rodney J Scott, Rolf H Sijmons, María-Jesús Sobrido & Mauno Vihinen, 2009, I : Genetics in Medicine. 11, 12, s. 843-849

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. 2008
  15. Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale

    Jean-Marc Calefato, Irma Nippert, Hilary J. Harris, Ulf Kristoffersson, Jorg Schmidtke, Leo P. Ten Kate, Elizabeth Anionwu, Caroline Benjamin, Kirsty Challen, Anne-Marie Plass, Rodney Harris & Claire Julian-Reynier, 2008, I : Genetics in Medicine. 10, 2, s. 99-106

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. Genetics in clinical practice: general practitioners' educational priorities in European countries

    Claire Julian-Reynier, Irma Nippert, Jean-Marc Calefato, Hilary Harris, Ulf Kristoffersson, Joerg Schmidtke, Leo Ten Kate, Elizabeth Anionwu, Caroline Benjamin, Kirsty Challen, Anne-Marie Plass & Rodney Harris, 2008, I : Genetics in Medicine. 10, 2, s. 107-113

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. 2006
  18. Familial risks of aortic aneurysms among siblings in a nationwide Swedish study

    Kari Hemminki, Xinjun Li, Sven-Erik Johansson, Kristina Sundquist & Jan Sundquist, 2006 jan, I : Genetics in Medicine. 8, 1, s. 43-49 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. 2005
  20. Genetic education and nongenetic health professionals: Educational providers and curricula in Europe.

    Kirsty Challen, Hilary Harris, Claire Julian-Reynier, Leo Ten Kate, Ulf Kristoffersson, Irmgard Nippert, Jörg Schmidtke, Caroline Benjamin & Rodney Harris, 2005, I : Genetics in Medicine. 7, 5, s. 302-310

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. 2001
  22. Issues in Human GenEthics

    Jorge M. Saraiva, Elizabeth Anionwu, Maria Belo, Trefor Jenkins, Ulf Kristoffersson, Isabel Marques, Heloisa G. Santos, Jorge Sequerio, Sheila A. Simpson, Dorothy Wertz & Carolino Montenerio, 2001, I : Genetics in Medicine. 3, 3, s. 218

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift