المؤلفون: Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-19 (2018)

مصطلحات موضوعية: Lynch syndrome, Gene panel testing, CHEK2, RNA splicing mutations, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-018-0533-9Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/a471ced28e4c4bb7ac5c073ec240e25dTest

المؤلفون: Monika Morak, Eivind Hovig, Elke Holinski-Feder, Sigve Nakken, Anke M. Nissen, Mev Dominguez-Valentin, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Alexandra Martins, Pål Møller

المساهمون: Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), University Hospital of the Ludwig-Maximilian-University Munich, Medizinische Klinik â€' Innenstadt, Lehrstuhl für Endokrinologie/Diabetologie, University Hospital of the Ludwig-Maximilians University, Génétique du cancer et des maladies neuropsychiatriques (GMFC)

المصدر: BMC Medical Genetics
BMC Medical Genetics, BioMed Central, 2018, 19 (1), ⟨10.1186/s12881-018-0533-9⟩
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-19 (2018)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, lcsh:Internal medicine, lcsh:QH426-470, [SDV]Life Sciences [q-bio], RNA Splicing, MAP Kinase Kinase Kinase 1, RNA splicing mutations, Biology, DNA Mismatch Repair, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Gene panel testing, lcsh:RC31-1245, Gene, CHEK2, Receptor, Notch3, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Norway, Genetic Variation, Exons, Sequence Analysis, DNA, Amplicon, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Human genetics, Lynch syndrome, 3. Good health, lcsh:Genetics, Checkpoint Kinase 2, 030104 developmental biology, 030220 oncology & carcinogenesis, RNA splicing, DNA mismatch repair, Female, Colorectal Neoplasms, Minigene, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7bb28d8f5e4adb2af795c1e1bc442f5Test
https://pubmed.ncbi.nlm.nih.gov/29458332Test