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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: Angela Abicht, Andreas Laner, Isabel Diebold, Ulrike Schön, Elke Holinski-Feder
المصدر: Cardiovasc Diagn Ther
مصطلحات موضوعية: medicine.medical_specialty, education.field_of_study, DSC2, Heart disease, business.industry, Genetic counseling, Population, Cardiomyopathy, Disease, medicine.disease, Bioinformatics, Sudden cardiac death, ddc, medicine, Medical genetics, Cardiology and Cardiovascular Medicine, education, business, Original Article on Current Management Aspects in Adult Congenital Heart Disease (ACHD): Part III
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c51e0873aebebe7f5ab5c97cef0feaTest
https://mediatum.ub.tum.de/doc/1659109/document.pdfTest -
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المؤلفون: Anna Benet-Pagès, Andreas Laner, Elke Holinski-Feder, B. Neitzel
المصدر: Familial cancer. 19(3)
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, endocrine system diseases, Five prime untranslated region, Genotyping Techniques, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, 030105 genetics & heredity, Biology, Epigenetic Repression, Polymerase Chain Reaction, Germline, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Germany, Genetics, medicine, South east, Humans, Genetic Testing, skin and connective tissue diseases, Promoter Regions, Genetic, Genetics (clinical), Genetic testing, Sanger sequencing, Ovarian Neoplasms, medicine.diagnostic_test, Genetic Carrier Screening, Promoter, Sequence Analysis, DNA, medicine.disease, Human genetics, Oncology, 030220 oncology & carcinogenesis, symbols, Female, Ovarian cancer, 5' Untranslated Regions
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b41f20f85d8d6955afd1be99e77d84Test
https://pubmed.ncbi.nlm.nih.gov/32200540Test -
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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 -
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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: Markus M. Nöthen, Ronja Adam, Per Hoffmann, Sven Perner, Michal R. Schweiger, Richard P. Lifton, Andreas Laner, Sukanya Horpaopan, Tim Becker, Bixiao Zhao, Jutta Kirfel, Bernd Timmermann, Sophia Peters, Isabel Spier, Stefanie Holzapfel, Stefan Aretz, Martin Kerick, Dmitriy Drichel, Elke Holinski-Feder, Glen Kristiansen
المصدر: Journal of Medical Genetics
Journal of medical genetics 53(3), 172-179 (2015). doi:10.1136/jmedgenet-2015-103468مصطلحات موضوعية: Adult, 0301 basic medicine, Mutation rate, Genes, APC, Adolescent, Adenomatous polyposis coli, Colorectal cancer, genetics [Adenomatous Polyposis Coli], Familial adenomatous polyposis, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Germline mutation, Mutation Rate, MUTYH, Genetics, medicine, Humans, ddc:610, Genetics (clinical), Sanger sequencing, biology, POLD1, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, genetics [Colorectal Neoplasms], 030104 developmental biology, Adenomatous Polyposis Coli, 030220 oncology & carcinogenesis, Mutation, symbols, biology.protein, Cancer research, Colorectal Neoplasms
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689a1ca3fae03ebd70e3e45bd747e0abTest
https://doi.org/10.1136/jmedgenet-2015-103468Test -
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المؤلفون: Mário Sousa, Julie Rath, Manuela M. Santos, Jorge Oliveira, Emília Vieira, Márcia E. Oliveira, Thomas L. Winder, Angela Gruber, T. Lourenço, José Pedro Vieira, Rosário Santos, Luciano Almendra, I. Fineza, Ana L. Gonçalves, Jocelyn Schroeder, Teresa Coelho, A. Sousa, Manuel Melo-Pires, Johan T. den Dunnen, Márcio Cardoso, Andreas Laner, Luís Negrão, Ricardo Taipa
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: 0301 basic medicine, Genotype, HDE GEN, HDE NEU PED, Gene mutation, Biology, Bioinformatics, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Missense mutation, Humans, Muscular dystrophy, Genetics (clinical), Alleles, Genetic Association Studies, Muscle weakness, Brain, Computational Biology, Genetic Variation, medicine.disease, Immunohistochemistry, Magnetic Resonance Imaging, 030104 developmental biology, Variome, Neonatal hypotonia, Phenotype, Failure to thrive, Mutation, Congenital muscular dystrophy, Laminin, medicine.symptom, Databases, Nucleic Acid, 030217 neurology & neurosurgery, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c04cd6b5e71af867bcdbbbc92a1fd80dTest
https://pubmed.ncbi.nlm.nih.gov/30055037Test -
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المصدر: Hereditary Colorectal Cancer ISBN: 9783319742588
مصطلحات موضوعية: Colorectal cancer, Alternative splicing, Genetic variants, medicine, Human genome, Genetic variability, Computational biology, Biology, medicine.disease, Gene, Inherited Predisposition
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0b34c03c6717169980baaf53dcbe5a4aTest
https://doi.org/10.1007/978-3-319-74259-5_18Test -
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المؤلفون: Isabel Spier, Verena Steinke, Sandra M. Pasternack, Stefan Aretz, Elke Holinski-Feder, Per Hoffmann, Holger Fröhlich, Janine Altmüller, Stefan Herms, Stefanie Heilmann, Andrea Hofmann, Alberto Perez-Bouza, Stefanie Vogt, Markus M. Nöthen, Dietlinde Stienen, Hartmut Engels, Stefanie Holzapfel, Holger Thiele, Franziska Degenhardt, Andreas Laner, Kathleen Keppler, Sukanya Horpaopan, Ronja Adam, Susanne Moebus, Markus Draaken, Siegfried Uhlhaas, Katrin Kayser, Alexander M. Zink
المصدر: International Journal of Cancer. 136:E578-E589
مصطلحات موضوعية: Genetics, Cancer Research, education.field_of_study, Candidate gene, Population, Colorectal adenoma, Biology, medicine.disease, medicine.disease_cause, Genome, Oncology, MUTYH, medicine, Copy-number variation, education, Carcinogenesis, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::49bf8e4b22e83e5de05d2fc983062434Test
https://doi.org/10.1002/ijc.29215Test -
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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
