يعرض 1 - 5 نتائج من 5 نتيجة بحث عن '"Andreas Laner"', وقت الاستعلام: 1.78s تنقيح النتائج
  1. 1
    HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

    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 Genomics

    مصطلحات 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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  2. 2
    Dealing With Unspecific Clinical Phenotypes in Molecular Autopsy - HPO-Driven Whole Exome Sequencing Analysis Versus Gene Panel Testing

    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


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  3. 3
    Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

    المؤلفون: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops

    المصدر: Frontiers in Genetics
    Frontiers in Genetics, 11. FRONTIERS MEDIA SA
    Frontiers in Genetics, Vol 11 (2020)

    مصطلحات موضوعية: 0301 basic medicine, mismatch repair genes, lcsh:QH426-470, mRNA, Computational biology, Biology, 0604 Genetics, 1103 Clinical Sciences, 1801 Law, Settore MED/03 - GENETICA MEDICA, mRNA splicing, 03 medical and health sciences, 0302 clinical medicine, variant interpretation and classification, Genetics, Missense mutation, Indel, Gene, Genetics (clinical), Messenger RNA, Brief Research Report, MSH6, lcsh:Genetics, 030104 developmental biology, Lynch syndrome, variant type, MSH2, 030220 oncology & carcinogenesis, RNA splicing, Molecular Medicine, DNA mismatch repair, splicing aberrations

    وصف الملف: application/pdf; Electronic-eCollection

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d85f0449e4dd3951a292aaa40f19af4Test


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  4. 4
    LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes

    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


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  5. 5
    Classification of Genetic Variants

    المؤلفون: Elke Holinski-Feder, Andreas Laner, Alexandra Martins, Maurizio Genuardi

    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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