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1دورية أكاديمية
المؤلفون: Tímea Margit Szabó, István Balogh, Anikó Ujfalusi, Zsuzsanna Szűcs, László Madar, Katalin Koczok, Beáta Bessenyei, Ildikó Csürke, Katalin Szakszon
المصدر: Genes, Vol 13, Iss 12, p 2367 (2022)
مصطلحات موضوعية: Helsmoortel–Van der AA syndrome, ADNP, Noonan, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Szilvia Andó, Katalin Koczok, Beáta Bessenyei, István Balogh, Anikó Ujfalusi
المصدر: Genes, Vol 13, Iss 11, p 2086 (2022)
مصطلحات موضوعية: infertility, cytogenetics, chromosomal aberrations, single-cell translocations, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Anna Deák, Katalin Koczok, Beáta Bessenyei, Zsuzsanna Szűcs, László Madar, Gabriella Csorba, Orsolya Orosz, István Laki, Adrien Halász, Géza Marsal, István Balogh
المصدر: Orvosi Hetilap. 163:2052-2059
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5fb8f634d2594d6d054fe56c2b1e12e0
https://doi.org/10.1556/650.2022.32655 -
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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: Ujfalusi, Szilvia Andó, Katalin Koczok, Beáta Bessenyei, István Balogh, Anikó
المصدر: Genes; Volume 13; Issue 11; Pages: 2086
مصطلحات موضوعية: infertility, cytogenetics, chromosomal aberrations, single-cell translocations
وصف الملف: application/pdf
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المؤلفون: Anna, Deák, Katalin, Koczok, Beáta, Bessenyei, Zsuzsanna, Szűcs, László, Madar, Gabriella, Csorba, Orsolya, Orosz, István, Laki, Adrien, Halász, Géza, Marsal, István, Balogh
المصدر: Orvosi hetilap. 163(51)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6da037ce0c8d9bf3ea4c669a1805778b
https://pubmed.ncbi.nlm.nih.gov/36528828 -
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المؤلفون: Ádám J. Borbély, Anikó Ujfalusi, Orsolya Nagy, Györgyi Lente, Katalin Szakszon, Beáta Bessenyei, Irén Kántor
المصدر: Mol Syndromol
مصطلحات موضوعية: Genetics, Microcephaly, Chromosomal translocation, Biology, medicine.disease, Short stature, Novel Insights from Clinical Practice, Intellectual disability, Gene duplication, medicine, medicine.symptom, Hypertelorism, Chromosome 22, Genetics (clinical), Chromosomal inversion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7b053626c80eeaf582d9236cf5fb46
https://europepmc.org/articles/PMC7445545/ -
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المؤلفون: Éva Oláh, Beáta Bessenyei
المصدر: Orvosi Hetilap. 155:341-347
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Medicine, Orvostudományok, General Medicine, Klinikai orvostudományok, business, medicine.disease, Craniosynostosis
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f67e1ea67857a2da4c894fed14314538
https://doi.org/10.1556/oh.2014.29821 -
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المؤلفون: Istvan Balogh, Gabriella P. Szabó, Éva Oláh, Beáta Bessenyei, Katalin Szakszon, Erzsébet Balogh, Anikó Ujfalusi
المصدر: Orvosi Hetilap. 155:348-357
مصطلحات موضوعية: Gynecology, Pediatrics, medicine.medical_specialty, business.industry, medicine, Orvostudományok, General Medicine, Klinikai orvostudományok, business, Genetic diagnosis
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca91720531b80035dd5e5f03243e2786
https://doi.org/10.1556/oh.2014.29690 -
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المؤلفون: Éva Oláh, Katalin Szakszon, Gabriella P. Szabó, Istvan Balogh, Tímea Margit Szabó, Anikó Ujfalusi, Beáta Bessenyei
المصدر: Journal of Genetic Syndromes & Gene Therapy.
مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Breakpoint, nutritional and metabolic diseases, 030105 genetics & heredity, Microdeletion syndrome, Biology, medicine.disease, Bioinformatics, Penetrance, nervous system diseases, 03 medical and health sciences, Epilepsy, medicine, Copy-number variation, Epigenetics, Torticollis, Comparative genomic hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b7cecc3c5253b354ed059c0847d7888d
https://doi.org/10.4172/2157-7412.1000294