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1دورية أكاديمية
المؤلفون: András L. Kovács, Judit Kárteszi, Zoltán Prohászka, Tibor Kalmár, Gábor Késmárky, Katalin Koltai, Zsuzsanna Nagy, Judit Sebők, Tibor Vas, Krisztián Molnár, Tímea Berki, Katalin Böröcz, Csaba Gyömörei, József Szalma, Miklós Egyed, Szabina Horváth, Péter Oláh, Dorottya Csuka, Viktória Németh, Rolland Gyulai
المصدر: Frontiers in Immunology, Vol 13 (2022)
مصطلحات موضوعية: juvenile loss of teeth, chronic leg ulcer, autoimmunity, whole exome sequencing, moesin protein, antiphospholipid syndrome, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Orsolya Nagy, Judit Kárteszi, Beatrix Elmont, Anikó Ujfalusi
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: 7q31 deletion, FOXP2, expressive speech disorder, MLPA, case report, Pediatrics, RJ1-570
وصف الملف: electronic resource
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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: Zoltán Maróti, Judit Kárteszi, Henrietta Poset, Tibor Kalmár, Julianna Fekete, Miklos Egyed
المصدر: Hematológia–Transzfuziológia. 53:201-205
مصطلحات موضوعية: business.industry, Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fbe88fd1b3f079f25d096b02a4421ba3
https://doi.org/10.1556/2068.2020.53.4.6 -
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المؤلفون: Orsolya, Nagy, Judit, Kárteszi, Marianna, Hartwig, Rita, Bertalan, Eszter, Jávorszky, Éva, Erhardt, Attila, Patócs, Tamás, Tornóczky, István, Balogh, Anikó, Ujfalusi
المصدر: Molecular biology reports. 46(5)
مصطلحات موضوعية: Heterozygote, Disorder of Sex Development, 46,XY, DNA Copy Number Variations, Sexual Development, Mutation, Testis, Disorders of Sex Development, Humans, Female, Exons, Steroidogenic Factor 1, Multiplex Polymerase Chain Reaction, Sequence Deletion
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المؤلفون: János Weisenbach, Tamás Illés, Judit Kárteszi, György Kosztolányi, Eva Morava
المصدر: American Journal of Medical Genetics Part A. :272-277
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Genetic heterogeneity, Hearing loss, Scoliosis, Anatomy, Cranial hyperostosis, medicine.disease, Osteochondrodysplasia, Dysplasia, Prominent supraorbital ridges, Genetics, medicine, medicine.symptom, business, Genetics (clinical), Rachis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b40d58d7a2876e2af9fc225e525721af
https://doi.org/10.1002/ajmg.a.10831 -
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المؤلفون: Márta Czakó, Eva Morava, György Kosztolányi, Judit Kárteszi, Kinga Hadzsiev
المصدر: Clinical Dysmorphology. 15:29-31
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Muscle Hypotonia, Lipodystrophy, Chromosome Disorders, Pathology and Forensic Medicine, Polyploidy, Arachnodactyly, Progeria, Internal medicine, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Chromosome Aberrations, Psychomotor learning, Psychomotor retardation, business.industry, Infant, Newborn, Karyotype, General Medicine, medicine.disease, Phenotype, Endocrinology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b004dfb7a512a8e5c48678af860eab6c
https://doi.org/10.1097/01.mcd.0000175605.10844.3e -
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المؤلفون: Ingrid M. van Beynum, Richard J. Rodenburg, Marjan Taher, Eva Morava, Eszter Szabados, Kalman Toth, Judit Kárteszi
المصدر: JIMD Reports ISBN: 9783642247576
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Torsades de pointes, Sudden cardiac arrest, Right bundle branch block, medicine.disease, QT interval, Article, Sudden cardiac death, Kearns–Sayre syndrome, Internal medicine, cardiovascular system, medicine, Cardiology, medicine.symptom, Left anterior fascicular block, business, Atrioventricular block
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cf81153cc07d758b11df5fc1fdc99e
https://doi.org/10.1007/8904_2011_32 -
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المؤلفون: Alessandra Renieri, Katalin Komlósi, Judit Kárteszi, Kinga Hadzsiev, Judit Bene, Katalin Hollódy, Noémi Polgár, György Kosztolányi, Béla Melegh
المصدر: Journal of human genetics. 56(3)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Methyl-CpG-Binding Protein 2, Nonsense mutation, CDKL5, Rett syndrome, Nerve Tissue Proteins, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, MECP2, Genetics, medicine, Rett Syndrome, Missense mutation, Humans, Child, Genetics (clinical), Mutation, Hungary, Infant, Newborn, Infant, Forkhead Transcription Factors, medicine.disease, Molecular biology, Stop codon, FOXG1, Phenotype, Female
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المؤلفون: Eva Morava, Judit Kárteszi, H Wosik, Jolanta Sykut-Cegielska, Dirk J. Lefeber, Kinga Hadzsiev, Ron A. Wevers, Maïlys Guillard, Maciej Adamowicz
المصدر: Journal of Inherited Metabolic Disease, 31, 450-6
Journal of Inherited Metabolic Disease, 31, 3, pp. 450-6مصطلحات موضوعية: Microcephaly, Pathology, medicine.medical_specialty, Pediatrics, congenital, hereditary, and neonatal diseases and abnormalities, Movement disorders, Glycosylation, Energy and redox metabolism [NCMLS 4], Neuroinformatics [DCN 3], Cataract, Genomic disorders and inherited multi-system disorders [IGMD 3], Atrophy, Congenital Disorders of Glycosylation, Perception and Action [DCN 1], Genetics, Medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Arthrogryposis, business.industry, Optic Nerve, Glycostation disorders [IGMD 4], Blood Coagulation Disorders, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Human genetics, Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], Presentation (obstetrics), medicine.symptom, business, Congenital disorder of glycosylation, Nephrotic syndrome
وصف الملف: application/pdf