المؤلفون: Anna Benet-Pagès, Stephanie Kleinle, Oliver Peschel, Andreas Laner, Ulrike Schön, Anna Holzer, Elke Holinski-Feder, Florentine Scharf, Isabel Diebold

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
BMC Medical Genomics

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Internal medicine, lcsh:QH426-470, Computational biology, 030204 cardiovascular system & hematology, Biology, Sudden unexplained death, 03 medical and health sciences, Annotation, 0302 clinical medicine, Molecular autopsy, Human Phenotype Ontology, Exome Sequencing, Genetics, Humans, Exome, lcsh:RC31-1245, Gene, Genetics (clinical), Exome sequencing, Variant interpretation, Whole exome sequencing, Computational Biology, Human genetics, ddc, lcsh:Genetics, 030104 developmental biology, Phenotype, Technical Advance, Autopsy, HPO, DNA microarray

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0312665bed7c16bfa9405c4d8b6c161Test
https://doaj.org/article/08a11a22f2ea42599a42a39be34627aaTest

المؤلفون: Anna Benet-Pagès, Florentine Scharf, Angela Abicht, Isabel Diebold, Andreas Laner, Ulrike Schön, Elke Holinski-Feder

المصدر: Human Mutation

مصطلحات موضوعية: Male, primary arrhythmia syndromes, medicine.medical_specialty, Long QT syndrome, Genomics, Disease, Biology, Gene mutation, Bioinformatics, Catecholaminergic polymorphic ventricular tachycardia, Ryanodine receptor 2, 03 medical and health sciences, Databases, Genetic, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, variant classification, Genetics (clinical), Alleles, Genetic Association Studies, Research Articles, 030304 developmental biology, Brugada syndrome, 0303 health sciences, variant interpretation, 030305 genetics & heredity, Genetic Variation, High-Throughput Nucleotide Sequencing, Arrhythmias, Cardiac, Syndrome, medicine.disease, ddc, Phenotype, secondary findings, Medical genetics, Female, actionable genes, cardiac channelopathy genes, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb35a8122c5e1d49ae3dfd6d10c3f066Test
https://pubmed.ncbi.nlm.nih.gov/32048431Test

المؤلفون: Anna Benet-Pagès, Martina Kerscher, Gisela Keller, Sarah Käsbauer, Andreas Laner, Elke Holinski-Feder, Monika Morak, Trisari Massdorf, Anke M. Nissen, Hans K. Schackert

المصدر: Familial Cancer. 16:491-500

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Loss of Heterozygosity, Biology, MLH1, Germline, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Genetics, medicine, Humans, neoplasms, Germ-Line Mutation, Genetics (clinical), nutritional and metabolic diseases, Microsatellite instability, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Pedigree, DNA-Binding Proteins, MSH6, MutS Homolog 2 Protein, 030104 developmental biology, Oncology, MSH3, MSH2, 030220 oncology & carcinogenesis, MutS Homolog 3 Protein, Cancer research, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed8f71a51098951e37ae05a1de8eeb9Test
https://doi.org/10.1007/s10689-017-9975-zTest

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

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

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-z

مصطلحات 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

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