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1دورية أكاديمية
المؤلفون: Anne-Deborah Bouhnik, Khadim N'Diaye, D Gareth Evans, Hilary Harris, Aad Tibben, Christi van Asperen, Joerg Schmidtke, Irmgard Nippert, Julien Mancini, Claire Julian-Reynier
المصدر: PLoS ONE, Vol 12, Iss 6, p e0178447 (2017)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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المؤلفون: Joerg Schmidtke, Kelly E. Ormond
المصدر: Journal of Community Genetics. 10:1-2
مصطلحات موضوعية: medicine.medical_specialty, Editorial, Epidemiology, Public health, Public Health, Environmental and Occupational Health, medicine, Engineering ethics, Sociology, Genetics (clinical), Human genetics
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المؤلفون: R. Zimmern, R. Raouf, Joerg Schmidtke, Arnold L. Christianson, Alastair Kent, Ulf Kristoffersson, C. Barreiro, I. Nippert
المصدر: Journal of Community Genetics. 4:297-308
مصطلحات موضوعية: Low income, Economic growth, medicine.medical_specialty, Epidemiology, business.industry, Public health, Public Health, Environmental and Occupational Health, Millennium Development Goals, Environmental health, Health care, medicine, Global health, Original Article, business, Genetics (clinical), Health policy, Health needs
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المؤلفون: Hülya Kayserili, L. I. Al Gazali, Julian R. Sampson, S.A. Huisman, Joke B. G. M. Verheij, Patrick Edery, Antonella Mendola, Marielle Alders, Carlo Bellini, Joerg Schmidtke, Y. van Bever, Vandana Shashi, Judith M.A. Verhagen, U. Frank, Raoul C.M. Hennekam, F. Hornshuh, S. Jagadeesh, Lesley C. Adès, Bruno Dallapiccola, Dorit Lev, N. Van der Aa, Carlos E. Prada, Miikka Vikkula, W.T. Keng
المصدر: Molecular Syndromology. 4:107-113
مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, business.industry, Lymphangiectasia, medicine.disease, medicine.disease_cause, Phenotype, Congenital lymphedema, Hennekam syndrome, Lymphedema, Lymphatic system, Dysplasia, Genetics, medicine, business, Genetics (clinical)
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المؤلفون: Anna Dierking, Eloisa Arbustini, Guillaume Jondeau, Mine Arslan-Kirchner, Sabine Hoffjan, Philippe Charron, Julie De Backer, Karin Mayer, Anne De Paepe, Catherine Boileau, Laurence Faivre, Britta Keyser, Peter N. Robinson, Anne H. Child, Gwenaëlle Collod-Béroud, Bart Loeys, Joerg Schmidtke
المساهمون: Institut für Humagenetik, Hannover Medical School [Hannover] (MHH)-Institut für Humagenetik, IRCCS - Pavia, Service de cardiologie, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Montréal (UdeM), Cardiac & Vascular Sciences, St Georges, University of London, Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Center for Medical Genetics [Ghent], Ghent University Hospital, Center for Medical Genetics, Universiteit Gent = Ghent University [Belgium] (UGENT), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Human Genetics, Department of Biochemistry, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Center for Human Genetics and Laboratory Medicine, Center of Human Genetics and Laboratory Medicine, Queen's University [Belfast] (QUB), Department of Clinical Genetics/EMGO Institute for Health and Care research, COLLOD-BEROUD, Gwenaëlle, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Universiteit Gent = Ghent University (UGENT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS)
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2015, 24 (1), pp.146-150. ⟨10.1038/ejhg.2015.225⟩
European journal of human genetics
European Journal of Human Genetics, 2015, 24 (1), pp.146-150. ⟨10.1038/ejhg.2015.225⟩مصطلحات موضوعية: Marfan syndrome, medicine.medical_specialty, Gene Expression, Dissection (medical), 030204 cardiovascular system & hematology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Loeys–Dietz syndrome, Thoracic aortic aneurysm, Sensitivity and Specificity, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Terminology as Topic, Genetics, medicine, Humans, 030212 general & internal medicine, Genetic Testing, Gene, Biology, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Genetic testing, medicine.diagnostic_test, Aortic Aneurysm, Thoracic, business.industry, High-Throughput Nucleotide Sequencing, Membrane Proteins, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Aneurysm dissecting, medicine.disease, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Chemistry, Aortic Dissection, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Clinical Utility Gene Card, Quality of Life, Cytokines, Radiology, Human medicine, Collagen, business, Biomarkers, Transcription Factors
وصف الملف: application/pdf
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المؤلفون: Thomas S. Mir, Y. von Kodolitsch, Christian R. Habermann, Matthias Hillebrand, Stefan Blankenberg, C. Kade, Joerg Schmidtke, Manfred Stuhrmann, Christian Detter, Mine Arslan-Kirchner, Sara Sheikhzadeh, Britta Keyser, Peter N. Robinson, Meike Rybczynski, Jürgen Berger, A. M. Bernhardt
المصدر: Clinical Genetics. 82:240-247
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Marfan syndrome, Nosology, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, Gene mutation, Marfan Syndrome, Genotype-phenotype distinction, Genetics, Humans, Medicine, Medical diagnosis, skin and connective tissue diseases, Genetics (clinical), Aged, business.industry, Middle Aged, medicine.disease, Phenotype, Clinical diagnosis, Female, business
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المصدر: Medizinische Genetik. 23:407-420
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Genetics, Medicine, business, Genetics (clinical)
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المؤلفون: U. Langenbeck, Joerg Schmidtke, E. Nyoungui, A. Dierking, M. Stuhrmann, Kathrin Rommel
المصدر: Medizinische Genetik. 22:213-220
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Genetics, medicine, business, Genetics (clinical)
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المؤلفون: A.D. Bouhnik, Joerg Schmidtke, Claire Julian-Reynier, G.D. Evans, Hilary Harris, C. J. van Asperen, Khadim Ndiaye, Aad Tibben, Julien Mancini, I. Nippert
المصدر: Revue d'Épidémiologie et de Santé Publique. 66:S152
مصطلحات موضوعية: Epidemiology, Public Health, Environmental and Occupational Health
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المؤلفون: George M. Martin, Norberto López, Kivanc Cefle, Davor Lessel, Sukru Ozturk, Junko Oshima, Joerg Schmidtke, P. F. Ippel, Bhaskar Saha, Gudrun Nürnberg, Joseph Boak, Fuki M. Hisama, Dru F. Leistritz, Daniel Eyman, Martin Poot, Katrin Friedrich, Holger Hoehn, Dincy Peter, María J. Garcia-F-Villalta, Lin Lee, Theda Wessel, Carolien M. Kets, Peter Nürnberg, Peter C. van den Akker, Christian Kubisch, Vítor Tedim Cruz, Birgit Groff-Kellermann, Chumei Li, Goli Compoginis
المساهمون: Translational Immunology Groningen (TRIGR)
المصدر: Human Genetics, 128, 103-11
HUMAN GENETICS, 128(1), 103-111. SPRINGER
Human Genetics, 128, 1, pp. 103-11مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Werner Syndrome Helicase, Mutation, Missense, Locus (genetics), VARIANTS, SYNDROME GENE, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Chromosome Breakpoints, Exon, NEUREGULIN-1, SCHIZOPHRENIA, Genetics, medicine, Humans, EPIDEMIOLOGY, Missense mutation, SYNDROME LOCUS, education, Genetics (clinical), Werner syndrome, education.field_of_study, RecQ Helicases, IDENTIFICATION, biology, NUCLEAR-LOCALIZATION, DNA HELICASE, nutritional and metabolic diseases, Helicase, medicine.disease, Founder Effect, Introns, SYNDROME PROTEIN, Human genetics, Exodeoxyribonucleases, Mutation, biology.protein, Female, Werner Syndrome, Founder effect