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1دورية أكاديمية
المؤلفون: Ulrike Schön, Anna Holzer, Andreas Laner, Stephanie Kleinle, Florentine Scharf, Anna Benet-Pagès, Oliver Peschel, Elke Holinski-Feder, Isabel Diebold
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Sudden unexplained death, Molecular autopsy, HPO, Variant interpretation, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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2
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 -
3
المؤلفون: Benjamin Hotter, Katherina Eger, Beate Schlotter, Kerstin Becker, Peter Reilich, Isabel Diebold, Ulrike Schön, Hannes Erdmann, Federica Montagnese, Mario Schäff-Vogelsang, Friedrich Stock, Berit Jordan, Angela Abicht
المصدر: Neuromuscular Disorders. 31:123-133
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Ubiquitin-Protein Ligases, Nonsense-mediated decay, Genomics, Disease, Biology, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Humans, Inheritance Patterns, Gene, Genetic Association Studies, Genetics (clinical), Aged, Genetics, Inheritance (genetic algorithm), Middle Aged, Axons, Pedigree, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Medical genetics, Female, Neurology (clinical), 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b414e3a31d4e9f64f3f59994c0d35a8Test
https://doi.org/10.1016/j.nmd.2020.11.011Test -
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المؤلفون: Anna Benet-Pagès, Rita Horvath, Stephanie Kleinle, Angela Abicht, Isabel Diebold, Ulrike Schön, Elke Holinski-Feder, Florentine Scharf
المساهمون: Diebold, Isabel [0000-0002-1753-563X], Apollo - University of Cambridge Repository
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, mtDNA‐server, Mitochondrial DNA, Mitochondrial Diseases, Mitochondrial disease, Computational biology, Biology, DNA, Mitochondrial, Sensitivity and Specificity, Genome, Deep sequencing, DNA sequencing, mtDNA-server, 03 medical and health sciences, symbols.namesake, mitochondrial disorders, Genetics, medicine, Humans, Genetic Testing, mitochondrial and nuclear disease panel, Molecular Biology, Genetics (clinical), Exome sequencing, Sanger sequencing, high‐throughput sequencing, high-throughput sequencing, High-Throughput Nucleotide Sequencing, Original Articles, Sequence Analysis, DNA, medicine.disease, Heteroplasmy, 030104 developmental biology, heteroplasmy detection, Costs and Cost Analysis, symbols, Original Article, NUMTs
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baca702771c93efdc70a64f8f6eba9d2Test
https://doi.org/10.1002/mgg3.500Test -
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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, 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 -
7دورية أكاديمية
المساهمون: The Pennsylvania State University CiteSeerX Archives
مصطلحات موضوعية: Mitochondrial DNA
وصف الملف: application/pdf
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المؤلفون: Heike Kölbel, Ulrike Schön, Isabel Diebold, Oliver Schwartz, Angela Abicht, Rita Horvath, Elke Holinski-Feder
مصطلحات موضوعية: Male, Adolescent, Medizin, Metabolic myopathy, Mitochondrial trifunctional protein, Disease, Biology, Bioinformatics, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Cohort Studies, 03 medical and health sciences, medicine, Humans, Myopathy, Child, Molecular Biology, 030304 developmental biology, 0303 health sciences, Newborn screening, 030306 microbiology, Genetic heterogeneity, Mitochondrial Trifunctional Protein, Metabolic disorder, High-Throughput Nucleotide Sequencing, Infant, Mitochondrial Myopathies, Cell Biology, Syndrome, medicine.disease, Phenotype, Child, Preschool, Mitochondrial Trifunctional Protein, beta Subunit, Mutation, biology.protein, Female, Mitochondrial Trifunctional Protein, alpha Subunit, medicine.symptom, Nervous System Diseases, Cardiomyopathies, HADHB
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450321f28c5d33747bbf52715be98ff8Test
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85060515459Test -
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المؤلفون: Angela Abicht, Tarja Lohioja, Mari Auranen, Thorsten Hornemann, Beate Schlotter-Weigel, Eino Palin, Jussi Toppila, Henna Tyynismaa, Maggie C. Walter, Anders Paetau, Emil Ylikallio, Bernd Rautenstrauss, Ulrike Schön, Saranya Suriyanarayanan, Maria Shcherbii, Yu Wei
المساهمون: University of Zurich, Ylikallio, Emil, Research Programs Unit, Research Programme for Molecular Neurology, Clinicum, Department of Diagnostics and Therapeutics, Department of Pathology, Medicum, Henna Tyynismaa / Principal Investigator
المصدر: Neuromolecular medicine. 18(1)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, 2804 Cellular and Molecular Neuroscience, Serine C-Palmitoyltransferase, Sphingolipid, Late Onset Disorders, Substrate Specificity, 0302 clinical medicine, GENETIC-VARIANTS, Germany, 540 Chemistry, Hereditary sensory and autonomic neuropathy, Medicine, Age of Onset, Hereditary Sensory and Autonomic Neuropathies, Finland, 10038 Institute of Clinical Chemistry, Genes, Dominant, Chronic axonal neuropathy, medicine.diagnostic_test, Middle Aged, 3. Good health, Pedigree, Neurology, Molecular Medicine, Female, medicine.medical_specialty, Small Fiber Neuropathy, BIOMARKERS, Molecular Sequence Data, Mutation, Missense, 610 Medicine & health, Late onset, Serine palmitoyl-CoA transferase, 03 medical and health sciences, Cellular and Molecular Neuroscience, DEOXYSPHINGOLIPIDS, Hereditary sensory autonomic neuropathy, Biopsy, Humans, Amino Acid Sequence, SPTLC1, TYPE-1, Aged, Sphingolipids, MUTATIONS, business.industry, 3112 Neurosciences, medicine.disease, SERINE PALMITOYLTRANSFERASE, Axons, Neuropathy, 030104 developmental biology, Amino Acid Substitution, Haplotypes, 1313 Molecular Medicine, 2808 Neurology, Skin biopsy, Age of onset, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7c8eb03c66612dbd3068f808f3715eTest
https://pubmed.ncbi.nlm.nih.gov/26573920Test -
10دورية أكاديمية
المؤلفون: Maike F. Dohrn, Corina Heller, Diana Zengeler, Carolin D. Obermaier, Saskia Biskup, Joachim Weis, Stefan Nikolin, Kristl G. Claeys, Ulrike Schöne, Danique Beijer, Natalie Winter, Pascal Achenbach, Burkhard Gess, Jörg B. Schulz, Lejla Mulahasanovic
المصدر: Neurological Research and Practice, Vol 4, Iss 1, Pp 1-4 (2022)
مصطلحات موضوعية: Polymerase gamma, Autosomal dominant, Axonal neuropathy, Myo-neuropathy, Mitochondrial myopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2524-3489Test
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