المؤلفون: Birgmeier, Johannes, Deisseroth, Cole A, Hayward, Laura E, Galhardo, Luisa MT, Tierno, Andrew P, Jagadeesh, Karthik A, Stenson, Peter D, Cooper, David N, Bernstein, Jonathan A, Haeussler, Maximilian, Bejerano, Gill

المصدر: Genetics in Medicine. 22(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biotechnology, Genetics, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Data Management, Databases, Factual, Databases, Genetic, Electronic Data Processing, Genomics, Humans, Information Storage and Retrieval, Natural Language Processing, PubMed, Publications, automatic variant retrieval, machine learning, natural language processing, full-text extraction, variants database, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/03x3x405Test

المؤلفون: Velkov, Stoyan

المساهمون: Protzer, Ulrike (Prof. Dr.), Frishman, Dmitrij (Prof. Dr.)

مصطلحات موضوعية: Medizin und Gesundheit, Biowissenschaften, Biologie, ddc:570, ddc:610, Hepatitis B Virus, Genotypen, Hepatitis D Virus, Mutationen, Varianten, Bioinformatik, Datenbank, Sequenzen, hepatitis b virus, genotypes, hepatitis d virus, mutations, variants, database, sequences, bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______518::db51adfb92b2e0e062212ae4bd879f23Test
https://mediatum.ub.tum.de/doc/1625554/document.pdfTest

المؤلفون: Klauke, Baerbel, Gaertner-Rommel, Anna, Schulz, Uwe, Kassner, Astrid, zu Knyphausen, Edzard, Laser, Thorsten, Kececioglu, Deniz, Paluszkiewicz, Lech, Blanz, Ute, Sandica, Eugen, van den Bogaerdt, Antoon J., van Tintelen, J. Peter, Gummert, Jan, Milting, Hendrik

المصدر: Klauke , B , Gaertner-Rommel , A , Schulz , U , Kassner , A , zu Knyphausen , E , Laser , T , Kececioglu , D , Paluszkiewicz , L , Blanz , U , Sandica , E , van den Bogaerdt , A J , van Tintelen , J P , Gummert , J & Milting , H 2017 , ' High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation ' , PLoS ONE , vol. 12 , no. 12 , e0189489 . https://doi.org/10.1371/journal.pone.0189489Test

مصطلحات موضوعية: RIGHT-VENTRICULAR CARDIOMYOPATHY, AMINO-ACID SUBSTITUTIONS, DILATED CARDIOMYOPATHY, PERICARDIAL DISEASES, POSITION STATEMENT, MISSENSE MUTATIONS, VARIANTS DATABASE, WORKING GROUP, WOOLLY HAIR, TASK-FORCE

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/b1a6984e-02e1-4db3-843f-21d8f032d5e3Test

الإتاحة: https://doi.org/10.1371/journal.pone.0189489Test
https://hdl.handle.net/11370/b1a6984e-02e1-4db3-843f-21d8f032d5e3Test
https://research.rug.nl/en/publications/b1a6984e-02e1-4db3-843f-21d8f032d5e3Test
https://pure.rug.nl/ws/files/52783188/journal.pone.0189489.pdfTest

المؤلفون: David N. Cooper, Cole A. Deisseroth, Peter D. Stenson, Jonathan A. Bernstein, Karthik A. Jagadeesh, Maximilian Haeussler, Gill Bejerano, Luisa M. T. Galhardo, Andrew P. Tierno, Johannes Birgmeier, Laura E. Hayward

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 2

مصطلحات موضوعية: PubMed, Databases, Factual, Computer science, automatic variant retrieval, Clinical Sciences, Information Storage and Retrieval, Computational biology, Gene mutation, Monogenic disease, full-text extraction, Article, Extractor, Databases, Genetic, Databases, Genetic, Genetics, 2.1 Biological and endogenous factors, Humans, variants database, Aetiology, natural language processing, Genetics (clinical), Factual, Data Management, Genetics & Heredity, Electronic Data Processing, Publications, Genetic variants, Genomics, Pathogenicity, Patient diagnosis, Open source, Good Health and Well Being, machine learning, Biotechnology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668bb9194da75acc9586401634c1e67bTest

المؤلفون: Baeissa, HM, Benstead-Hume, G, Richardson, CJ, Pearl, FMG

المساهمون: Richardson, Christopher

مصطلحات موضوعية: mutations oncogene tumour suppressor AMINO-ACID SUBSTITUTIONS CANCER GENOME FUNCTIONAL IMPACT SOMATIC MUTATIONS B-RAF GENES PATHOGENICITY VARIANTS DATABASE TRANSFORMATION

وصف الملف: 931

العلاقة: http://publications.icr.ac.uk/15172Test/; BIOCHEMICAL SOCIETY TRANSACTIONS, 2016, 44 pp. 925 - 931; https://repository.icr.ac.uk/handle/internal/1696Test

الإتاحة: http://publications.icr.ac.uk/15172Test/
https://repository.icr.ac.uk/handle/internal/1696Test

المؤلفون: Edzard zu Knyphausen, Uwe Schulz, Deniz Kececioglu, Hendrik Milting, Astrid Kassner, J. Peter van Tintelen, Ute Blanz, Antoon J. van den Bogaerdt, Baerbel Klauke, Anna Gaertner-Rommel, Lech Paluszkiewicz, Thorsten Laser, Eugen Sandica, Jan Gummert

المساهمون: Cardiothoracic Surgery, ACS - Amsterdam Cardiovascular Sciences, Human Genetics, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis, Cardiovascular Centre (CVC)

المصدر: PLoS One (online), 12(12):e0189489. Public Library of Science
PLoS ONE
PLoS ONE, 12(12):e0189489. Public Library of Science
PLoS ONE, Vol 12, Iss 12, p e0189489 (2017)
PLoS ONE, 12(12):e0189489. PUBLIC LIBRARY SCIENCE

مصطلحات موضوعية: MISSENSE MUTATIONS, Male, 0301 basic medicine, Heredity, Heart disease, Cardiovascular Procedures, Cardiomyopathy, lcsh:Medicine, Cardiovascular Medicine, 030204 cardiovascular system & hematology, Gene mutation, Cohort Studies, LMNA, 0302 clinical medicine, Medicine and Health Sciences, Missense mutation, POSITION STATEMENT, lcsh:Science, Child, Multidisciplinary, AMINO-ACID SUBSTITUTIONS, Homozygote, High-Throughput Nucleotide Sequencing, Dilated cardiomyopathy, Middle Aged, Cardiac Transplantation, PERICARDIAL DISEASES, Cardiovascular Diseases, Female, Cardiomyopathies, Research Article, RIGHT-VENTRICULAR CARDIOMYOPATHY, Adult, Genotyping, Adolescent, Genotype, Mutation, Missense, Cardiology, VARIANTS DATABASE, Surgical and Invasive Medical Procedures, Research and Analysis Methods, Sudden death, Young Adult, 03 medical and health sciences, Genetics, medicine, Humans, Molecular Biology Techniques, Molecular Biology, Alleles, Aged, Family Health, Heart Failure, Transplantation, business.industry, lcsh:R, WORKING GROUP, Infant, Newborn, Biology and Life Sciences, Human Genetics, Organ Transplantation, DILATED CARDIOMYOPATHY, medicine.disease, 030104 developmental biology, Genetic Loci, Mutation, Genetics of Disease, Immunology, Heart Transplantation, lcsh:Q, WOOLLY HAIR, MYH7, business, Plakophilins, TASK-FORCE

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdc256e6420ec1fc81da506880e185b6Test
https://doi.org/10.1371/journal.pone.0189489Test

المؤلفون: Wolfgang Wurst, Elodie Bedu, John M. Hancock, Debra Brooker, Wolfgang Hans, Marie-France Champy, Sarah Atkins, Kim Wong, Martin Hrabě de Angelis, Elisabetta Golini, Karen P. Steel, Oliver Puk, Silvia Mandillo, Abdel Ayadi, George Nicholson, Elizabeth J. Cartwright, Mohammed Selloum, Min Zi, David J. Adams, Pierre Jurdic, Hilary Gates, Hugh P. Morgan, Anna-Karin Gerdin, Steve D.M. Brown, Luis Santos, Petr Danecek, Sabine M. Hölter, Jan Rozman, Mark Sanderson, Helmut Fuchs, Hamid Meziane, Sara Wells, Lore Becker, Binnaz Yalcin, Carl Shannon, Roy Combe, Michelle Simon, Valerie E. Vancollie, Werner Müller, Thomas M. Keane, Valerie Gailus-Durner, Ann-Marie Mallon, Yann Herault, Simon Greenaway, Romain Dacquin, Sophia Djebali, Frédéric Preitner, Frauke Neff, Jacqueline K. White, Ramiro Ramirez-Solis, Tertius Hough, Ian J. Jackson, Anne Southwell, Andreas Lengeling, Neil J. Ingham, Tania Sorg, Michel Roux, Bastian Pasche, Jeanne Estabel, Heather Cater, Laura-Anne Roberson, Glauco P. Tocchini-Valentini, Jochen Graw, Armida Di Fenza, Andrew Blake, Henrik Westerberg, Jacqueline Marvel

المساهمون: Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Medical Research Counc, The Wellcome Trust Sanger Institute [Cambridge], German Research Centre for Environmental Health, Helmholtz-Zentrum München (HZM), Institut Clinique de la Souris (ICS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Strasbourg (UNISTRA), Faculty of Medical and Human Sciences, University of Manchester [Manchester], SFR Biosciences, École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Immunité et lymphocytes cytotoxiques – Immunity and cytotoxic lymphocytes, Centre International de Recherche en Infectiologie - UMR (CIRI), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Medical Research Council Human Genetics Unit (IGMM), University of Edinburgh, Infection and Immunity Division, Cell Biology and Neurobiology Institute, Consiglio Nazionale delle Ricerche [Roma] (CNR), Department of Infection Genetics, Helmholtz Centre for Infection Research (HZI), Faculty of Life Sciences, Mouse Metabolic Facility of the Cardiomet Center, Université de Lausanne (UNIL), Chair for Developmental Genetics, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Deutsches Zentrum für Neurodegenerative Erkrankungen, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), The project was funded by the European Commission contract numbers LSHG-CT-2006-037188 EUMODIC and LSHG-CT-2007-037445, and also supported by the Wellcome Trust (grant number 098051)., BMC, Ed., Helmholtz Zentrum München = German Research Center for Environmental Health, Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Lausanne = University of Lausanne (UNIL), Université de Lausanne = University of Lausanne (UNIL)-Université de Lausanne = University of Lausanne (UNIL), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Centre International de Recherche en Infectiologie (CIRI), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR)

المصدر: Genome biology 14(7), R82 (2013). doi:10.1186/gb-2013-14-7-r82
Genome Biology
Genome Biology, BioMed Central, 2013, 14 (7), pp.R82. ⟨10.1186/gb-2013-14-7-r82⟩
Genome biology (Online) 14 (2013). doi:10.1186/gb-2013-14-7-r82
info:cnr-pdr/source/autori:Simon, Michelle M.; Greenaway, Simon; White, Jacqueline K.; Fuchs, Helmut; Gailus-Durner, Valerie; Wells, Sara; Sorg, Tania; Wong, Kim; Bedu, Elodie; Cartwright, Elizabeth J.; Dacquin, Romain; Djebali, Sophia; Estabel, Jeanne; Graw, Jochen; Ingham, Neil J.; Jackson, Ian J.; Lengeling, Andreas; Mandillo, Silvia; Marvel, Jacqueline; Meziane, Hamid; Preitner, Frederic; Puk, Oliver; Roux, Michel; Adams, David J.; Atkins, Sarah; Ayadi, Abdel; Becker, Lore; Blake, Andrew; Brooker, Debra; Cater, Heather; Champy, Marie-France; Combe, Roy; Danecek, Petr; di Fenza, Armida; Gates, Hilary; Gerdin, Anna-Karin; Golini, Elisabetta; Hancock, John M.; Hans, Wolfgang; Hoelter, Sabine M.; Hough, Tertius; Jurdic, Pierre; Keane, Thomas M.; Morgan, Hugh; Mueller, Werner; Neff, Frauke; Nicholson, George; Pasche, Bastian; Roberson, Laura-Anne; Rozman, Jan; Sanderson, Mark; Santos, Luis; Selloum, Mohammed; Shannon, Carl; Southwell, Anne; Tocchini-Valentini, Glauco P.; Vancollie, Valerie E.; Westerberg, Henrik; Wurst, Wolfgang; Zi, Min; Yalcin, Binnaz; Ramirez-Solis, Ramiro; Steel, Karen P.; Mallon, Ann-Marie; de Angelis, Martin Hrabe; Herault, Yann; Brown, Steve D. M./titolo:A comparative phenotypic and genomic analysis of C57BL%2F6J and C57BL%2F6N mouse strains/doi:10.1186%2Fgb-2013-14-7-r82/rivista:Genome biology (Online)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume:14
Genome Biology, 2013, 14 (7), pp.R82. ⟨10.1186/gb-2013-14-7-r82⟩
Simon, M M, Greenaway, S, White, J K, Fuchs, H, Gailus-Durner, V, Wells, S, Sorg, T, Wong, K, Bedu, E, Cartwright, E J, Dacquin, R, Djebali, S, Estabel, J, Graw, J, Ingham, N J, Jackson, I J, Lengeling, A, Mandillo, S, Marvel, J, Meziane, H, Preitner, F, Puk, O, Roux, M, Adams, D J, Atkins, S, Ayadi, A, Becker, L, Blake, A, Brooker, D, Cater, H, Champy, M F, Combe, R, Danecek, P, di Fenza, A, Gates, H, Gerdin, A K, Golini, E, Hancock, J M, Hans, W, Holter, S M, Hough, T, Jurdic, P, Keane, T M, Morgan, H, Muller, W, Neff, F, Nicholson, G, Pasche, B, Roberson, L A, Rozman, J, Sanderson, M, Santos, L, Selloum, M, Shannon, C, Southwell, A, Tocchini-Valentini, G P, Vancollie, V E, Westerberg, H, Wurst, W, Zi, M, Yalcin, B, Ramirez-Solis, R, Steel, K P, Mallon, A M, de Angelis, M H, Herault, Y & Brown, S D M 2013, ' A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains ', Genome Biology, vol. 14, no. 7, R82 . https://doi.org/10.1186/gb-2013-14-7-r82Test
Genome Biol. 14:R82 (2013)
Genome Biology, vol. 14, no. 7, pp. R82

مصطلحات موضوعية: Male, Candidate gene, immunology [Killer Cells, Natural], sequence variation, Mouse Inbred Lines, Sequence Variation, Mouse Phenotyping, Gene Knockout, C57bl/6, C57BL/6, [SDV.GEN] Life Sciences [q-bio]/Genetics, Eye, diagnostic imaging [Femur], Genome, microbiology [Listeriosis], 0302 clinical medicine, Inbred strain, INDEL Mutation, immunology [Hypersensitivity], Listeriosis, Femur, mouse phenotyping, Disease Resistance, Genetics, pathology [Eye], 0303 health sciences, Behavior, Animal, immunology [Listeriosis], Killer Cells, Natural, Phenotype, genetics [Polymorphism, Single Nucleotide], [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, genetics [Genome], Mouse inbred lines, gene knockout, Biology, Polymorphism, Single Nucleotide, immunology [Spleen], International Knockout Mouse Consortium, 03 medical and health sciences, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], ddc:570, Hypersensitivity, Animals, Expressivity (genetics), genetics [INDEL Mutation], immunology [Disease Resistance], Maze Learning, Gene, 030304 developmental biology, Whole genome sequencing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Research, X-Ray Microtomography, Mouse inbred lines sequence variation mouse phenotyping gene knockout C57BL/6 sequencing data complex traits gene-function resource mice europhenome annotation substrains variants database, Human genetics, Mice, Inbred C57BL, 030217 neurology & neurosurgery, Spleen

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd3492980b24970dd3d75d930c197cbeTest
https://hdl.handle.net/10033/620694Test

عناروين إضافية: Schätzung der weltweiten Verteilung von Hepatitis B Virus Genotypen und klinisch relevanten Varianten

مصطلحات الفهرس: info:eu-repo/classification/ddc/570, Biowissenschaften, Biologie, info:eu-repo/classification/ddc/610, Medizin und Gesundheit, hepatitis b virus, genotypes, hepatitis d virus, mutations, variants, database, sequences, bioinformatics, Hepatitis B Virus, Genotypen, Hepatitis D Virus, Mutationen, Varianten, Bioinformatik, Datenbank, Sequenzen, thesis, doc-type:doctoralThesis

URL: https://mediatum.ub.tum.de/1625554Test
https://mediatum.ub.tum.de/doc/1625554/document.pdfTest
http://nbn-resolving.de/urn:nbn:de:bvb:91-diss-20220817-1625554-1-1Test