المؤلفون: Vincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter A Wolf

المصدر: Journal of medical genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0a32adee5841cf680b666e824db8a2Test
https://pubmed.ncbi.nlm.nih.gov/36593122Test

المؤلفون: Florentine, Scharf, Rafaela Magalhaes, Leal Silva, Monika, Morak, Alex, Hastie, Julia M A, Pickl, Kai, Sendelbach, Christian, Gebhard, Melanie, Locher, Andreas, Laner, Verena, Steinke-Lange, Udo, Koehler, Elke, Holinski-Feder, Dieter A, Wolf

المصدر: Journal of medical genetics. 59(10)

مصطلحات موضوعية: Chromothripsis, DNA, Complementary, Genes, APC, Adenomatous Polyposis Coli, Axin Protein, Adenomatous Polyposis Coli Protein, Colonic Neoplasms, Humans, Genetic Predisposition to Disease, RNA, Messenger, beta Catenin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::366b2bf22ff0947a398166ebf9e7c864Test
https://pubmed.ncbi.nlm.nih.gov/34911816Test

المؤلفون: Anna Benet-Pagès, Gisela Keller, Monika Morak, Daniela Gonzales-Fassrainer, Ayseguel Ibisler, Ellen Jessen, Melanie Locher, Andreas Laner, Trisari Massdorf, Elke Holinski-Feder, Anke M. Nissen

المصدر: Journal of Medical Genetics. 55:240-248

مصطلحات موضوعية: 0301 basic medicine, Genetics, Promoter, Methylation, Biology, MLH1, digestive system diseases, MSH6, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, MSH2, 030220 oncology & carcinogenesis, PMS2, Epigenetics, Allele, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc9f51feb632f0f67e2e51f301b255bcTest
https://doi.org/10.1136/jmedgenet-2017-104744Test

المؤلفون: Markus M. Nöthen, Ronja Adam, Per Hoffmann, Sven Perner, Michal R. Schweiger, Richard P. Lifton, Andreas Laner, Sukanya Horpaopan, Tim Becker, Bixiao Zhao, Jutta Kirfel, Bernd Timmermann, Sophia Peters, Isabel Spier, Stefanie Holzapfel, Stefan Aretz, Martin Kerick, Dmitriy Drichel, Elke Holinski-Feder, Glen Kristiansen

المصدر: Journal of Medical Genetics
Journal of medical genetics 53(3), 172-179 (2015). doi:10.1136/jmedgenet-2015-103468

مصطلحات موضوعية: Adult, 0301 basic medicine, Mutation rate, Genes, APC, Adolescent, Adenomatous polyposis coli, Colorectal cancer, genetics [Adenomatous Polyposis Coli], Familial adenomatous polyposis, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Germline mutation, Mutation Rate, MUTYH, Genetics, medicine, Humans, ddc:610, Genetics (clinical), Sanger sequencing, biology, POLD1, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, genetics [Colorectal Neoplasms], 030104 developmental biology, Adenomatous Polyposis Coli, 030220 oncology & carcinogenesis, Mutation, symbols, biology.protein, Cancer research, Colorectal Neoplasms

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689a1ca3fae03ebd70e3e45bd747e0abTest
https://doi.org/10.1136/jmedgenet-2015-103468Test

المؤلفون: Monika, Morak, Ayseguel, Ibisler, Gisela, Keller, Ellen, Jessen, Andreas, Laner, Daniela, Gonzales-Fassrainer, Melanie, Locher, Trisari, Massdorf, Anke M, Nissen, Anna, Benet-Pagès, Elke, Holinski-Feder

المصدر: Journal of medical genetics. 55(4)

مصطلحات موضوعية: Adult, Male, DNA Methylation, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Gene Expression Regulation, Neoplastic, Humans, Female, Genetic Predisposition to Disease, Colorectal Neoplasms, MutL Protein Homolog 1, Promoter Regions, Genetic, Alleles, Germ-Line Mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e29bbed98a88f1a50f422036cdc6c1caTest
https://pubmed.ncbi.nlm.nih.gov/29472279Test