Human Genetics, 1432-1203

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  1. 2019
  2. Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus

    Jonas Carlsson Almlöf, Sara Nystedt, Dag Leonard, Maija Leena Eloranta, Giorgia Grosso, Christopher Sjöwall, Anders A. Bengtsson, Andreas Jönsen, Iva Gunnarsson, Elisabet Svenungsson, Lars Rönnblom, Johanna K. Sandling & Ann Christine Syvänen, 2019, In : Human Genetics. 138, 2, p. 141–150

    Research output: Contribution to journalArticle

  3. 2017
  4. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

    Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot-Bastaraud, Marie Laure Moutard, Pankaj B. Agrawal, Grace VanNoy, Joan M. Stoler, David J Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier-Daire, Catherine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint-Martin & 31 others, Edouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloes, Christine Orzechowski, Lydie Burglen, Bruno Leheup, Joelle Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael J. Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Tord Jonson, Maria Soller & DDD Study DDD Study, 2017, In : Human Genetics. 136, 4, p. 463-479 17 p.

    Research output: Contribution to journalArticle

  5. 2016
  6. Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations

    Xiaohong R. Yang, Melissa Rotunno, Yanzi Xiao, Christian Ingvar, Hildur Helgadottir, Lorenza Pastorino, Remco van Doorn, Hunter Bennett, Cole Graham, Joshua N. Sampson, Michael Malasky, Aurelie Vogt, Bin Zhu, Giovanna Bianchi-Scarra, William Bruno, Paola Queirolo, Giuseppe Fornarini, Johan Hansson, Rainer Tuominen, Laurie Burdett & 12 others, Belynda Hicks, Amy Hutchinson, Kristine Jones, Meredith Yeager, Stephen J. Chanock, Maria Teresa Landi, Veronica Höiom, Håkan Olsson, Nelleke Gruis, Paola Ghiorzo, Margaret A. Tucker & Alisa M. Goldstein, 2016, In : Human Genetics. 135, 11, p. 1241-1249 9 p.

    Research output: Contribution to journalArticle

  7. 2015
  8. Types and effects of protein variations.

    Mauno Vihinen, 2015, In : Human Genetics. 134, 4, p. 405-421

    Research output: Contribution to journalArticle

  9. 2014
  10. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

    C. Fernandez-Rozadilla, J. B. Cazier, I. Tomlinson, A. Brea-Fernandez, M. J. Lamas, M. Baiget, L. A. Lopez-Fernandez, J. Clofent, L. Bujanda, D. Gonzalez, L. de Castro, Kari Hemminki, X. Bessa, M. Andreu, R. Jover, R. Xicola, X. Llor, V. Moreno, A. Castells, S. Castellvi-Bel & 2 others, A. Carracedo & C. Ruiz-Ponte, 2014, In : Human Genetics. 133, 5, p. 525-534

    Research output: Contribution to journalArticle

  11. 2013
  12. Genome-wide investigation of gene-environment interactions in colorectal cancer

    Sabine Siegert, Jochen Hampe, Clemens Schafmayer, Witigo von Schoenfels, Jan-Hendrik Egberts, Asta Försti, Bowang Chen, Jesus Lascorz, Kari Hemminki, Andre Franke, Michael Nothnagel, Ute Noethlings & Michael Krawczak, 2013, In : Human Genetics. 132, 2, p. 219-231

    Research output: Contribution to journalArticle

  13. 2011
  14. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

    Kate M Im, Tomas Kirchhoff, Xianshu Wang, Todd Green, Clement Y Chow, Joseph Vijai, Joshua Korn, Mia M Gaudet, Zachary Fredericksen, V Shane Pankratz, Candace Guiducci, Andrew Crenshaw, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M Sinilnikova, Phuong L Mai, Mark H Greene, Marion Piedmonte & 31 others, Wendy S Rubinstein, Frans B Hogervorst, Matti A Rookus, J Margriet Collée, Nicoline Hoogerbrugge, Christi J van Asperen, Hanne E J Meijers-Heijboer, Cees E Van Roozendaal, Trinidad Caldes, Pedro Perez-Segura, Anna Jakubowska, Jan Lubinski, Tomasz Huzarski, Paweł Blecharz, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lazaro, Ignacio Blanco, Rosa B Barkardottir, Marco Montagna, Emma D'Andrea, Peter Devilee, Olufunmilayo I Olopade, Susan L Neuhausen, Bernard Peissel, Bernardo Bonanni, Paolo Peterlongo, Christian F Singer, Gad Rennert, Mark J Daly & HEBON HEBON, 2011 Nov, In : Human Genetics. 130, 5, p. 685-99 15 p.

    Research output: Contribution to journalArticle

  15. 2005
  16. Book review: Genetic predisposition of cancer, 2nd ed.

    Ulf Kristoffersson, 2005, In : Human Genetics. 117, 4, p. 406-407

    Research output: Contribution to journalReview (Book/Film/Exhibition/etc.)

  17. 2003
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