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: Elke Holinski-Feder, Janine Graf, Brigitte Schönfeld, Andreas Laner, Udo Koehler, Ariane Hallermayr, Anna Benet-Pagès

المصدر: Clinical Case Reports

مصطلحات موضوعية: 0301 basic medicine, NR_023343.1:n.116A>C, Case Report, Nucleotide substitution, Case Reports, Compound heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Critical regions, Medicine, RNU4ATAC gene, Nucleotide, Gene, Roifman Syndrome, Roifman syndrome, Genetics, chemistry.chemical_classification, NR_023343.1:n.13C>T, business.industry, RNU4ATAC, clinical exome sequencing, General Medicine, minor intron splicing, 030104 developmental biology, chemistry, snRNA U4atac, business, 030217 neurology & neurosurgery, Coding (social sciences)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2bc486981ba76c51499c643ba1d996Test
https://doi.org/10.1002/ccr3.1830Test

المؤلفون: Oliver Peschel, Elke Holinski-Feder, Stephanie Kleinle, Ulrike Schoen, Andreas Laner, Anna Benet-Pagès, Isabel Diebold, Florentine Scharf, Anna Holzer

مصطلحات موضوعية: Text mining, Versus gene, business.industry, Molecular autopsy, Computational biology, Biology, business, behavioral disciplines and activities, Phenotype, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::006d2422c1aecfd17332e1bb963e1aecTest
https://doi.org/10.21203/rs.3.rs-122014/v1Test

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

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

مصطلحات موضوعية: Chromosomal rearrangements, genomics, gastrointestinal diseases, gene expression profiling, gene rearrangement, genetics, medical, Genetics, Genetics (clinical), ddc

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8b4295c2d013950175836a8fc03078Test
https://mediatum.ub.tum.de/doc/1689191/document.pdfTest

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

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

المصدر: Journal of Medical Genetics. 55:240-248

مصطلحات موضوعية: 0301 basic medicine, Genetics, Promoter, Methylation, Biology, MLH1, digestive system diseases, MSH6, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, MSH2, 030220 oncology & carcinogenesis, PMS2, Epigenetics, Allele, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc9f51feb632f0f67e2e51f301b255bcTest
https://doi.org/10.1136/jmedgenet-2017-104744Test

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

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