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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: 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: 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: Udo Koehler, Tanja Haeusser, Brigitte Mauracher, Andreas Laner, Christiane Kling, Nils Rahner, Kerstin Schaefer, Verena Steinke-Lange, Monika Morak, Jessica Bailey, Susanne Keinath, Elke Holinski-Feder, Trisari Massdorf
المصدر: Eur J Hum Genet
مصطلحات موضوعية: DNA, Complementary, RNA Stability, Mutation, Missense, Biology, DNA Mismatch Repair, Article, Complementary DNA, Genetics, Humans, Missense mutation, RNA, Messenger, Allele, Gene, Alleles, Genetics (clinical), Messenger RNA, RNA, Exons, Nonsense Mediated mRNA Decay, Alternative Splicing, Gene Expression Regulation, Codon, Nonsense, RNA splicing, DNA mismatch repair, RNA Splice Sites, Colorectal Neoplasms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26b955d50e7382adc08238bc3b0c6f4Test
https://doi.org/10.1038/s41431-019-0472-8Test -
5
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 -
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المؤلفون: Andreas Laner, Frank Kowalzik, Adrian Viehweger, Franziska Wilhelm, Susanne Schuster, Gordian L. Schmid, Norman Händel, Wieland Kiess, Fred-P. Zepp, Wolfgang Hirsch, Jürgen Kratzsch, Franziska Kässner, Antje Körner, Sven Starke, Holm H. Uhlig, Antje Garten
المصدر: Pediatric Research. 75:527-534
مصطلحات موضوعية: Lipomatosis, In Vitro Techniques, Drug therapy, Hamartoma, Paediatrics, PTEN, PHTS, PI3K, AKT, mTOR, medicine, Humans, Tensin, PTEN, ddc:610, Protein kinase B, PI3K/AKT/mTOR pathway, Sirolimus, biology, business.industry, Infant, Newborn, PTEN Phosphohydrolase, Infant, Lipoma, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Cancer research, biology.protein, Thymus hyperplasia, Hamartoma Syndrome, Multiple, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67a8def215d5e18bf194b3f5c96310fTest
https://doi.org/10.1038/pr.2013.246Test