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11
المؤلفون: Andreas Laner, Ales Maver, Johan T. den Dunnen
المصدر: Human Mutation. 43
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef09e45c1c367dde6b1168baae698c7bTest
https://doi.org/10.1002/humu.24442Test -
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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 Genomicsمصطلحات 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 -
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المؤلفون: Anna K. Sommer, Iris B.A.W. te Paske, José Garcia-Pelaez, Andreas Laner, Elke Holinski-Feder, Verena Steinke-Lange, Sophia Peters, Laura Valle, Isabel Spier, David Huntsman, Carla Oliveira, Richarda M. de Voer, Nicoline Hoogerbrugge, Stefan Aretz, Gabriel Capella, Gareth Evans, Andreas Rump, Evelin Schröck, Alexander Hoischen, Nicoline Geverink, Marc Tischkowitz, Leslie Matalonga, Steven Laurie, Christian Gilissen, Wouter Steyaert, German Demidov
المصدر: European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 5مصطلحات موضوعية: Genetic tumour risk syndromes, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Omics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, General Medicine, European reference network, Tumour predisposition syndromes, All institutes and research themes of the Radboud University Medical Center, Neoplastic Syndromes, Hereditary, ERN GENTURIS, Exome Sequencing, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics, Humans, Genetic Predisposition to Disease, Colorectal Neoplasms, Cancer genetics, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd81a62ab9d3b8928c73e1a1d1473b35Test
http://hdl.handle.net/10230/54621Test -
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المؤلفون: Stefan Aretz, Andreas Laner, Verena Steinke-Lange, Melanie Locher, Katrin Kayser, Monika Morak, Anna Benet-Pages, Elke Holinski-Feder, Trisari Massdorf
المصدر: Familial Cancer. 19:161-167
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, DNA Copy Number Variations, 030105 genetics & heredity, Biology, MLH1, DNA Mismatch Repair, Germline, 03 medical and health sciences, Exon, 0302 clinical medicine, Germany, Genetics, PMS2, Humans, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Gene Rearrangement, Sequence Inversion, Breakpoint, High-Throughput Nucleotide Sequencing, Colorectal Neoplasms, Hereditary Nonpolyposis, Introns, digestive system diseases, MutS Homolog 2 Protein, Oncology, MSH2, 030220 oncology & carcinogenesis, DNA mismatch repair, MutL Protein Homolog 1, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d913ea5a66063623f066d575db2c5878Test
https://doi.org/10.1007/s10689-020-00159-4Test -
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المؤلفون: Ariane Hallermayr (6004439), Teresa M. Neuhann (14303942), Verena Steinke-Lange (8886347), Florentine Scharf (13629079), Andreas Laner (14303945), Roland Ewald (547381), Ben Liesfeld (14303948), Elke Holinski-Feder (9479), Julia M. A. Pickl (13629091)
مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, liquid biopsy, tissue biopsy, circulating tumor DNA, analytical validation, Duplex sequencing, asymmetric overgrowth syndrome
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المؤلفون: Ariane Hallermayr (6004439), Teresa M. Neuhann (14303942), Verena Steinke-Lange (8886347), Florentine Scharf (13629079), Andreas Laner (14303945), Roland Ewald (547381), Ben Liesfeld (14303948), Elke Holinski-Feder (9479), Julia M. A. Pickl (13629091)
مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, liquid biopsy, tissue biopsy, circulating tumor DNA, analytical validation, Duplex sequencing, asymmetric overgrowth syndrome
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المؤلفون: Andreas Laner, Anna Benet-Pagès, Monika Morak, Dimitrij Frishman, Anke Marie Arnold, Elke Holinski-Feder
المصدر: Eur J Hum Genet
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Biology, MLH1, Sensitivity and Specificity, Article, MutS Proteins, Genetics, medicine, PMS2, Humans, ddc:630, Genetic Testing, Copy-number variation, Genetics (clinical), Polymorphism, Genetic, High-Throughput Nucleotide Sequencing, Microsatellite instability, Sequence Analysis, DNA, Epithelial Cell Adhesion Molecule, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Introns, digestive system diseases, Lynch syndrome, ddc, MSH6, MutL Proteins, MSH3, MSH2
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a767e5ea1b702a96fb51d8554bd27924Test
https://doi.org/10.1038/s41431-019-0536-9Test -
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المؤلفون: Monika Morak, Marta Pineda, Alexandra Martins, Pascaline Gaildrat, Hélène Tubeuf, Aurélie Drouet, Carolina Gómez, Estela Dámaso, Kerstin Schaefer, Verena Steinke-Lange, Udo Koehler, Andreas Laner, Julie Hauchard, Karine Chauris, Elke Holinski-Feder, Gabriel Capellá
المصدر: European journal of human genetics : EJHG. 30(9)
مصطلحات موضوعية: Alternative Splicing, DNA Repair Enzymes, Transcription, Genetic, Loss of Function Mutation, Reverse Transcriptase Polymerase Chain Reaction, DNA Mutational Analysis, Genetics, Humans, Protein Isoforms, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8a12a3470ee37628b61410b1cd3809Test
https://pubmed.ncbi.nlm.nih.gov/35676339Test -
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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 -
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المؤلفون: Teresa M. Neuhann, Katharina Haub, Verena Steinke-Lange, Monika Morak, Andreas Laner, Melanie Locher, Elke Holinski-Feder
المصدر: Familial cancer. 21(4)
مصطلحات موضوعية: Cancer Research, Sulindac, Oncology, Adenomatous Polyposis Coli, Anti-Inflammatory Agents, Non-Steroidal, Genetics, Humans, Prospective Studies, Chemoprevention, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c4a5073adee5a906bb8157d144e3f31Test
https://pubmed.ncbi.nlm.nih.gov/35570229Test
