المؤلفون: Schouten M; Department of Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., van 't Veer C, van der Poll T, Levi M

المصدر: The Netherlands journal of medicine [Neth J Med] 2012 Sep; Vol. 70 (7), pp. 306-10.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Van Zuiden Communications Country of Publication: Netherlands NLM ID: 0356133 Publication Model: Print Cited Medium: Internet ISSN: 1872-9061 (Electronic) Linking ISSN: 03002977 NLM ISO Abbreviation: Neth J Med Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Anti-Bacterial Agents/*therapeutic use , Factor V/*genetics , Sepsis/*drug therapy , Sepsis/*epidemiology, Humans ; Incidence ; Treatment Outcome

المؤلفون: Levi M; Department of Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. m.m.levi@amc.uva.nl, Schouten M, van't Veer C, van der Poll T

المصدر: Seminars in thrombosis and hemostasis [Semin Thromb Hemost] 2011 Nov; Vol. 37 (8), pp. 955-60. Date of Electronic Publication: 2011 Dec 23.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Thieme Country of Publication: United States NLM ID: 0431155 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-9064 (Electronic) Linking ISSN: 00946176 NLM ISO Abbreviation: Semin Thromb Hemost Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Factor V/*genetics , Infections/*genetics , Sepsis/*genetics, Animals ; Humans ; Infections/blood ; Mice ; Sepsis/blood ; Thrombophilia/blood ; Thrombophilia/genetics ; Thrombophilia/microbiology

المؤلفون: Bhuiyan ZA; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. z.a.Bhuiyan@amc.uva.nl, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, Nelen M, Schouten M, Jongbloed R, Cox MG, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJ, van den Berg MP, Mannens MM, Hauer RN, Wilde AA, van Tintelen JP

المصدر: Circulation. Cardiovascular genetics [Circ Cardiovasc Genet] 2009 Oct; Vol. 2 (5), pp. 418-27. Date of Electronic Publication: 2009 Aug 01.

نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101489144 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1942-3268 (Electronic) Linking ISSN: 19423268 NLM ISO Abbreviation: Circ Cardiovasc Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Arrhythmogenic Right Ventricular Dysplasia/*genetics , Desmocollins/*genetics , Desmoglein 2/*genetics, Adolescent ; Adult ; Arrhythmogenic Right Ventricular Dysplasia/metabolism ; Cohort Studies ; Desmocollins/metabolism ; Desmoglein 2/metabolism ; Desmosomes/genetics ; Desmosomes/metabolism ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Netherlands ; Pedigree ; Plakophilins/genetics ; Plakophilins/metabolism ; Young Adult

المؤلفون: Dijck, A. van, Vulto-van Silfhout, A.T., Cappuyns, E., Werf, I.M. van der, Mancini, G.M., Tzschach, A., Bernier, R., Gozes, I., Eichler, E.E., Romano, C., Lindstrand, A., Nordgren, A., Kvarnung, M., Kleefstra, T., Vries, B.B.A. de, Kury, S., Rosenfeld, J.A., Meuwissen, M.E., Vandeweyer, G., Kooy, R.F., Bakshi, M., Wilson, M., Berman, Y., Dickson, R., Fransen, E., Helsmoortel, C., Ende, J. van den, Aa, N. van der, Wijdeven, M.J. van de, Rosenblum, J., Monteiro, F., Kok, F., Quercia, N., Bowdin, S., Dyment, D., Chitayat, D., Alkhunaizi, E., Boonen, S.E., Keren, B., Jacquette, A., Faivre, L., Bezieau, S., Isidor, B., Riess, A., Moog, U., Lynch, S.A., McVeigh, T., Elpeleg, O., Smeland, M.F., Fannemel, M., Haeringen, A. van, Maas, S.M., Veenstra-Knol, H.E., Schouten, M., Willemsen, M.H., Marcelis, C.L., Ockeloen, C., Burgt, I. van der, Feenstra, I., Smagt, J. van der, Jezela-Stanek, A., Krajewska-Walasek, M., Gonzalez-Lamuno, D., Anderlid, B.M., Malmgren, H., Nordenskjold, M., Clement, E., Hurst, J., Metcalfe, K., Mansour, S., Lachlan, K., Clayton-Smith, J., Hendon, L.G., Abdulrahman, O.A., Morrow, E., McMillan, C., Gerdts, J., Peeden, J., Vergano, S.A.S., Valentino, C., Chung, W.K., Ozmore, J.R., Bedrosian-Sermone, S., Dennis, A., Treat, K., Hughes, S.S., Safina, N., Pichon, J.B. le, McGuire, M., Infante, E., Madan-Khetarpal, S., Desai, S., Benke, P., Krokosky, A., Cristian, I., Baker, L., Gripp, K., Stessman, H.A., Eichenberger, J., Jayakar, P., Pizzino, A., Manning, M.A., Slattery, L., ADNP Consortium

المساهمون: Universidad de Cantabria, ADNP Consortium, Human Genetics, ANS - Complex Trait Genetics, Clinical Genetics

المصدر: Biological Psychiatry, 85(4), 287-297. ELSEVIER SCIENCE INC
Biological Psychiatry Volume 85, Issue 4, 15 February 2019, Pages 287-297
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Biological Psychiatry, 85, 4, pp. 287-297
Biological Psychiatry, 85(4), 287. Elsevier USA
Biological psychiatry
Biological Psychiatry, 85, 287-297
Biological psychiatry, 85(4), 287-297. Elsevier USA
Biological Psychiatry, 85(4), 287-297. Elsevier Inc.

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Autism Spectrum Disorder, Autism, Intellectual disability, Cohort Studies, Epilepsy, 0302 clinical medicine, Genotype-phenotype distinction, Neurodevelopmental disorder, Neurodevelopmental Disorder, Helsmoortel-Van der Aa syndrome, Child, ADNP, Syndrome, Hypotonia, Autism spectrum disorder, Child, Preschool, Cohort, Female, Abnormalities, medicine.symptom, Multiple, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Adolescent, Nerve Tissue Proteins, Article, Young Adult, 03 medical and health sciences, Intellectual Disability, Helsmoortel-Van der Aa Síndrome, medicine, Genetics, Humans, Abnormalities, Multiple, Preschool, Biology, Biological Psychiatry, Homeodomain Proteins, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Infant, medicine.disease, 030104 developmental biology, Neurodevelopmental Disorders, Mutation, Human medicine, business, 030217 neurology & neurosurgery

وصف الملف: text/plain; pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517869385daa59216cda03fc628eb520
http://hdl.handle.net/1887/122773

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