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المؤلفون: Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
المساهمون: Institut Català de la Salut, [Maia N, Marques I] Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magãlhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto) Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal. [Ibarluzea N] Biocruces Bizkaia Health Research Institute, Barakaldo, Spain. [Misra-Isrie M] Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. [Koboldt DC] Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA. [Soares G] Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal. [Valenzuela I] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143مصطلحات موضوعية: Discapacitat intel·lectual - Aspectes genètics, Anomalies cromosòmiques, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES]
وصف الملف: application/pdf
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المؤلفون: Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian
المساهمون: MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Institut Català de la Salut, [Cali E] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. [Suri M] Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom. [Scala M] Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. [Ferla MP] Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom. Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom. [Alavi S] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran. Palindrome, Isfahan, Iran. [Faqeih EA] Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142مصطلحات موضوعية: Neurobiologia del desenvolupament, Discapacitat intel·lectual - Aspectes genètics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enanismo [ENFERMEDADES], trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Nanisme, Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES], All institutes and research themes of the Radboud University Medical Center, Other subheadings::Other subheadings::/genetics [Other subheadings], Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Dwarfism [DISEASES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf; image/jpeg; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167
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المؤلفون: Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador, María Arnedo, Beatriz Puisac, Neus Castells, Alberto Plaja, Anna Tenes, Ivon Cuscó, Laura Trujillano, Feliciano J. Ramos, Eduardo F. Tizzano, Paulino Gómez-Puertas, Juan Pié
المساهمون: Institut Català de la Salut, [Lucia-Campos C, Latorre-Pellicer A, Gil-Salvador M, Arnedo M] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. [Valenzuela I, Castells N, Plaja A, Tenes A, Trujillano L, Tizzano EF] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Ros-Pardo D] Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Molecular Modeling Group, Madrid, Spain. [Cuscó I] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Department of Genetics, Hospital Sant Pau, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Genes
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Scientia
Genes; Volume 13; Issue 8; Pages: 1413مصطلحات موضوعية: Discapacitat intel·lectual - Aspectes genètics, Otros calificadores::Otros calificadores::/genética [Otros calificadores], intragenic duplication, enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual::síndrome de De Lange [ENFERMEDADES], Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn [DISEASES], Cornelia de Lange syndrome, Fenotip, genetic diagnosis, HDAC8, Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability::De Lange Syndrome [DISEASES], Other subheadings::Other subheadings::/genetics [Other subheadings], Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES], Genetics, array CGH, genetic disorder, copy number variants, Malalties congènites, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas [ENFERMEDADES], fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS], Genetics (clinical)
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