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1
المؤلفون: Jan Henkel, Andreas Laner, Melanie Locher, Tobias Wohlfrom, Birgit Neitzel, Kerstin Becker, Teresa Neuhann, Angela Abicht, Verena Steinke-Lange, Elke Holinski-Feder
المصدر: European Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::68d57d800bda26e09d18d49298adfdfcTest
https://doi.org/10.1038/s41431-023-01380-2Test -
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المؤلفون: Ariane Hallermayr, Teresa M. Neuhann, Verena Steinke-Lange, Florentine Scharf, Andreas Laner, Roland Ewald, Ben Liesfeld, Elke Holinski-Feder, Julia M. A. Pickl
المصدر: Frontiers in Oncology. 12
مصطلحات موضوعية: Cancer Research, Oncology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eae351dfda0ee72fe8f592c92e030d29Test
https://doi.org/10.3389/fonc.2022.1014592Test -
3
المؤلفون: Andreas Laner, Ales Maver, Johan T. den Dunnen
المصدر: Human Mutation. 43:973-975
مصطلحات موضوعية: Phenotype, Genome, Human, Mutation, Genetics, Humans, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d40d0dceabc955ff087b845aca6928Test
https://doi.org/10.1002/humu.24429Test -
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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 -
5
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: 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 -
7
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 -
9
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