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1
المؤلفون: Anna Benet-Pagès, Stephanie Kleinle, Oliver Peschel, Andreas Laner, Ulrike Schön, Anna Holzer, Elke Holinski-Feder, Florentine Scharf, Isabel Diebold
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
BMC Medical Genomicsمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Internal medicine, lcsh:QH426-470, Computational biology, 030204 cardiovascular system & hematology, Biology, Sudden unexplained death, 03 medical and health sciences, Annotation, 0302 clinical medicine, Molecular autopsy, Human Phenotype Ontology, Exome Sequencing, Genetics, Humans, Exome, lcsh:RC31-1245, Gene, Genetics (clinical), Exome sequencing, Variant interpretation, Whole exome sequencing, Computational Biology, Human genetics, ddc, lcsh:Genetics, 030104 developmental biology, Phenotype, Technical Advance, Autopsy, HPO, DNA microarray
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0312665bed7c16bfa9405c4d8b6c161Test
https://doaj.org/article/08a11a22f2ea42599a42a39be34627aaTest -
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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: 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 -
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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: T. Schwarz, Andreas Laner, D. Schindelhauer, S. Christan
مصطلحات موضوعية: Green Fluorescent Proteins, Clone (cell biology), Cytomegalovirus, Human artificial chromosome, Biology, Transfection, Chromosomes, Artificial, Human, Green fluorescent protein, Cell Line, chemistry.chemical_compound, Genetics, medicine, Humans, Molecular Biology, Genetics (clinical), medicine.diagnostic_test, Chromosomes, Artificial, P1 Bacteriophage, Chromosome, Telomere, Molecular biology, Blasticidin S, ddc, chemistry, Expression cassette, Fluorescence in situ hybridization
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3c22d9e64d9e218224a60213ed18f0eTest
https://mediatum.ub.tum.de/doc/1218534/document.pdfTest