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1
المؤلفون: Holger Thiele, Elke Holinski-Feder, Michael Kloth, Markus M. Nöthen, Gabriela Möslein, Richard P. Lifton, Reinhard Büttner, Glen Kristiansen, Bixiao Zhao, Jonathan Marquez, Inga Hinrichsen, Janine Altmüller, Andreas Laner, Sukanya Horpaopan, Jutta Kirfel, Angela Brieger, Aylar Tafazzoli, Stefanie Holzapfel, Regina C. Betz, Nicolaus Friedrichs, Ronja Adam, Siegfried Uhlhaas, Sophia Peters, Isabel Spier, Giancarlo Marra, Dietlinde Stienen, Katrin Kayser, Stefan Aretz
المصدر: The American Journal of Human Genetics. 99(2):337-351
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Adenomatous polyposis coli, DNA Mutational Analysis, Genes, Recessive, Article, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, MUTYH, Genetics, Humans, Exome, Genetics(clinical), ddc:610, Alleles, Germ-Line Mutation, Genetics (clinical), Exome sequencing, Mismatch Repair Endonuclease PMS2, biology, POLD1, Middle Aged, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Adenomatous Polyposis Coli, MSH3, Child, Preschool, 030220 oncology & carcinogenesis, MutS Homolog 3 Protein, biology.protein, Cancer research, Female, Colorectal Neoplasms
وصف الملف: application/octet-stream
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41921d5917d6a1c2d7d2e3842f11d595Test
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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-2015-103468مصطلحات 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 -
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المؤلفون: Isabel Spier, Verena Steinke, Sandra M. Pasternack, Stefan Aretz, Elke Holinski-Feder, Per Hoffmann, Holger Fröhlich, Janine Altmüller, Stefan Herms, Stefanie Heilmann, Andrea Hofmann, Alberto Perez-Bouza, Stefanie Vogt, Markus M. Nöthen, Dietlinde Stienen, Hartmut Engels, Stefanie Holzapfel, Holger Thiele, Franziska Degenhardt, Andreas Laner, Kathleen Keppler, Sukanya Horpaopan, Ronja Adam, Susanne Moebus, Markus Draaken, Siegfried Uhlhaas, Katrin Kayser, Alexander M. Zink
المصدر: International Journal of Cancer. 136:E578-E589
مصطلحات موضوعية: Genetics, Cancer Research, education.field_of_study, Candidate gene, Population, Colorectal adenoma, Biology, medicine.disease, medicine.disease_cause, Genome, Oncology, MUTYH, medicine, Copy-number variation, education, Carcinogenesis, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::49bf8e4b22e83e5de05d2fc983062434Test
https://doi.org/10.1002/ijc.29215Test -
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المؤلفون: Michal R. Schweiger, Stefan Aretz, Ronja Adam, Bernd Timmermann, Sven Perner, Sukanya Horpaopan, Dmitriy Drichel, Richard P. Lifton, Markus M. Nöthen, Tim Becker, Andreas Laner, Per Hoffmann, Bixiao Zhao, Sophia Peters, Isabel Spier, Holger Thiele, Martin Kerick, Janine Altmüller, Stefanie Holzapfel, Elke Holinski-Feder
المصدر: Famillial Cancer
Familial cancer 15(2), 281-288 (2016). doi:10.1007/s10689-016-9870-zمصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Adenomatous polyposis coli, Colorectal adenoma, genetics [Adenomatous Polyposis Coli], Ion Channels, Familial adenomatous polyposis, Adenomatous Polyps, 03 medical and health sciences, Germline mutation, MUTYH, Genetics, medicine, Humans, PIEZO1 protein, human, Exome, Genetic Predisposition to Disease, ddc:610, Germ-Line Mutation, Genetics (clinical), Exome sequencing, Aged, Desmocollins, Massive parallel sequencing, biology, High-Throughput Nucleotide Sequencing, Reproducibility of Results, genetics [Ion Channels], Middle Aged, genetics [Desmocollins], medicine.disease, genetics [Adenomatous Polyps], DSC2 protein, human, 030104 developmental biology, Adenomatous Polyposis Coli, Oncology, biology.protein, Female
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ac9aa6b6b9e1709fe1ae1610f8e08cTest
https://hdl.handle.net/11858/00-001M-0000-0029-6B80-711858/00-001M-0000-0029-6B82-3Test -
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المؤلفون: Gisela Keller, Andreas Laner, Albert de la Chapelle, Barbara Heidenreich, Elke Holinski-Feder, Monika Morak, Heather Hampel
المصدر: European journal of human genetics : EJHG. 22(11)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA Repair, DNA Mutational Analysis, Short Report, Biology, medicine.disease_cause, DNA Mismatch Repair, DNA Glycosylases, Germline mutation, MUTYH, Genetics, medicine, Humans, neoplasms, Genetics (clinical), Alleles, Germ-Line Mutation, Mutation, Homozygote, Microsatellite instability, nutritional and metabolic diseases, Exons, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, Lynch syndrome, digestive system diseases, Pedigree, MSH2, Cancer research, DNA mismatch repair, Female, Microsatellite Instability, KRAS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faa96ab7fe5a8f0b0e5372984453497eTest
https://pubmed.ncbi.nlm.nih.gov/24518836Test