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

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

المؤلفون: Holger Thiele, Elke Holinski-Feder, Michael Kloth, Markus M. Nöthen, Gabriela Möslein, Richard P. Lifton, Reinhard Büttner, Glen Kristiansen, Bixiao Zhao, Jonathan Marquez, Inga Hinrichsen, Janine Altmüller, Andreas Laner, Sukanya Horpaopan, Jutta Kirfel, Angela Brieger, Aylar Tafazzoli, Stefanie Holzapfel, Regina C. Betz, Nicolaus Friedrichs, Ronja Adam, Siegfried Uhlhaas, Sophia Peters, Isabel Spier, Giancarlo Marra, Dietlinde Stienen, Katrin Kayser, Stefan Aretz

المصدر: The American Journal of Human Genetics. 99(2):337-351

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Adenomatous polyposis coli, DNA Mutational Analysis, Genes, Recessive, Article, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, MUTYH, Genetics, Humans, Exome, Genetics(clinical), ddc:610, Alleles, Germ-Line Mutation, Genetics (clinical), Exome sequencing, Mismatch Repair Endonuclease PMS2, biology, POLD1, Middle Aged, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Adenomatous Polyposis Coli, MSH3, Child, Preschool, 030220 oncology & carcinogenesis, MutS Homolog 3 Protein, biology.protein, Cancer research, Female, Colorectal Neoplasms

وصف الملف: application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41921d5917d6a1c2d7d2e3842f11d595Test

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:RCAAP

مصطلحات 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

المؤلفون: Monika, Morak, Ayseguel, Ibisler, Gisela, Keller, Ellen, Jessen, Andreas, Laner, Daniela, Gonzales-Fassrainer, Melanie, Locher, Trisari, Massdorf, Anke M, Nissen, Anna, Benet-Pagès, Elke, Holinski-Feder

المصدر: Journal of medical genetics. 55(4)

مصطلحات موضوعية: Adult, Male, DNA Methylation, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Gene Expression Regulation, Neoplastic, Humans, Female, Genetic Predisposition to Disease, Colorectal Neoplasms, MutL Protein Homolog 1, Promoter Regions, Genetic, Alleles, Germ-Line Mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e29bbed98a88f1a50f422036cdc6c1caTest
https://pubmed.ncbi.nlm.nih.gov/29472279Test

المؤلفون: Gisela Keller, Andreas Laner, Albert de la Chapelle, Barbara Heidenreich, Elke Holinski-Feder, Monika Morak, Heather Hampel

المصدر: European journal of human genetics : EJHG. 22(11)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA Repair, DNA Mutational Analysis, Short Report, Biology, medicine.disease_cause, DNA Mismatch Repair, DNA Glycosylases, Germline mutation, MUTYH, Genetics, medicine, Humans, neoplasms, Genetics (clinical), Alleles, Germ-Line Mutation, Mutation, Homozygote, Microsatellite instability, nutritional and metabolic diseases, Exons, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, Lynch syndrome, digestive system diseases, Pedigree, MSH2, Cancer research, DNA mismatch repair, Female, Microsatellite Instability, KRAS

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faa96ab7fe5a8f0b0e5372984453497eTest
https://pubmed.ncbi.nlm.nih.gov/24518836Test