المؤلفون: Out, AA, Tops, CMJ, Nielsen, M, Weiss, MM, van Minderhout, IJHM, Fokkema, IFAC, Buisine, MP, Claes, K, Colas, C, Fodde, R, Fostira, F, Franken, PF, Gaustadnes, M, Heinimann, K, Hodgson, SV, Hogervorst, FBL, Holinski-Feder, E, Lagerstedt-Robinson, K, Olschwang, S, van den Ouweland, AMW, Redeker, EJW, Scott, RJ, Vankeirsbilck, B, Gronlund, RV, Wijnen, JT, Wikman, FP, Aretz, S, Sampson, JR, Devilee, P, den Dunnen, JT, Hes, FJ

المصدر: Human mutation. 31(11):1205-1215

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:121523340

المؤلفون: ten Broeke, SW, van der Klift, HM, Tops, CMJ, Aretz, S, Bernstein, I, Buchanan, DD, de la Chapelle, A, Capella, G, Clendenning, M, Engel, C, Gallinger, S, Gomez Garcia, E, Figueiredo, JC, Haile, R, Hampel, HL, Hopper, JL, Hoogerbrugge, N, Doeberitz, MV, Le Marchand, L, Letteboer, TGW, Jenkins, MA, Lindblom, A, Lindor, NM, Mensenkamp, AR, Moller, P, Newcomb, PA, van Os, TAM, Pearlman, R, Pineda, M, Rahner, N, Redeker, EJW, Olderode-Berends, MJW, Rosty, C, Schackert, HK, Scott, R, Senter, L, Spruijt, L, Steinke-Lange, V, Suerink, M, Thibodeau, S, Vos, YJ, Wagner, A, Winship, I, Hes, FJ, Vasen, HFA, Wijnen, JT, Nielsen, M, Win, AK

المصدر: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 36(29):2961

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139659584

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المؤلفون: Broekema MF; Department of Human Genetics, Amsterdam UMC, Academic Medical Center, Amsterdam, The Netherlands. m.broekema@amsterdamumc.nl., Redeker EJW; Department of Human Genetics, Amsterdam UMC, Academic Medical Center, Amsterdam, The Netherlands., Uiterwaal MT; Department of Gastroenterology, Spaarne Hospital, Hoofddorp, The Netherlands., van Hest LP; Department of Human Genetics, Amsterdam UMC, Academic Medical Center, Amsterdam, The Netherlands.

المصدر: Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2023 Aug 25; Vol. 21 (1), pp. 16. Date of Electronic Publication: 2023 Aug 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: Poland NLM ID: 101231179 Publication Model: Electronic Cited Medium: Print ISSN: 1731-2302 (Print) Linking ISSN: 17312302 NLM ISO Abbreviation: Hered Cancer Clin Pract Subsets: PubMed not MEDLINE

المؤلفون: Spaanderman IT; Dept. of Medical Oncology, Amsterdam University Medical Centers, University of Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands.; Dept. of Experimental Immunology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Infection & Immunity, Amsterdam, The Netherlands., Peters FS; Dept. of Experimental Immunology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Infection & Immunity, Amsterdam, The Netherlands., Jongejan A; Dept. of Bio-informatics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam¸ The Netherlands., Redeker EJW; Dept. of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Punt CJA; Dept. of Medical Oncology, Amsterdam University Medical Centers, University of Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands.; Dept. of Experimental Immunology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Infection & Immunity, Amsterdam, The Netherlands.; Dept. of Bio-informatics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam¸ The Netherlands.; Dept. of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Dept. of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands., Bins AD; Dept. of Medical Oncology, Amsterdam University Medical Centers, University of Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands.; Dept. of Experimental Immunology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Infection & Immunity, Amsterdam, The Netherlands.

المصدر: PloS one [PLoS One] 2021 Jun 28; Vol. 16 (6), pp. e0251630. Date of Electronic Publication: 2021 Jun 28 (Print Publication: 2021).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Colonic Neoplasms/*genetics , Colonic Neoplasms/*therapy , Frameshift Mutation/*genetics , Microsatellite Instability/*drug effects , Peptides/*genetics, Colonic Neoplasms/immunology ; Genome/genetics ; Humans ; Immunotherapy/methods ; Microsatellite Repeats/genetics ; Nonsense Mediated mRNA Decay/genetics ; RNA, Messenger/genetics ; Reading Frames/genetics

المؤلفون: Huffnagel IC; Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Redeker EJW; Department of Clinical Genetics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Reneman L; Department of Radiology, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Vaz FM; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Poll-The BT; Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. b.t.pollthe@amc.uva.nl.

المصدر: JIMD reports [JIMD Rep] 2018; Vol. 39, pp. 83-87. Date of Electronic Publication: 2017 Jul 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

المؤلفون: Mathijssen IB; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. i.b.mathijssen@amc.uva.nl., van Maarle MC; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., Kleiss IIM; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., Redeker EJW; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., Ten Kate LP; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, VU University Medical Center, Amsterdam, The Netherlands., Henneman L; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, VU University Medical Center, Amsterdam, The Netherlands., Meijers-Heijboer H; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

المصدر: Journal of community genetics [J Community Genet] 2017 Oct; Vol. 8 (4), pp. 327-333. Date of Electronic Publication: 2017 May 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE