نتائج البحث - "Dana Young"

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, 135-142

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167Test
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8eTest

5

Utilization of Danio rerio (zebrafish) embryos to compare the modulatory effects of Abelmoschus esculentus (L.) (okra), Curcuma longa (L.) (turmeric) and Moringa oleifera (Lam.) (malunggay) aqueous extracts on the development and expression of selected gene markers

المؤلفون: Kirsten Margarette Evidente, Adam Daniel Galang, Immanuel Christian Fontanilla, Rosheen Angel Villaraza, Aila Mariano, Mariah Odelle Quintano, Dana Young, Dana Fay Yu, Mariella Cielo Cobarrubias, Yrish Shane de Guzman, Anna Francine Felipe, Denise Marinelle Rivera, Marilyn Rimando

المصدر: Acta Manilana. 69:27-44

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5a068089691617c3d17c484ee2f7e9cdTest
https://doi.org/10.53603/actamanil.69.2021.fhkx5891Test

6

An intervention to improve the self-efficacy of key workers to support parental wellbeing at an early childhood intervention service in Australia: a stepped wedged randomized cluster trial

المؤلفون: Dana Young, John Reynolds, Utsana Tonmukayakul, Rob Carter, Elena Swift, Katrina Williams, Rachael McDonald, Dinah Reddihough, Rod Carracher, Paul Ireland, Jane Tracy, Cassie Kenyon, Lisa Gibbs

مصطلحات موضوعية: Rehabilitation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c71619bcee9ba99e649413f07173d7eeTest

7

High rate of hypertension in patients with m.3243A>G MELAS mutations and POLG variants

المؤلفون: Darwin F. Yeung, Anna Lehman, Dayna-Lynn Nevay, Teresa S.M. Tsang, Damon Poburko, Michael Tsang, Dana Young, Michelle M. Mezei, Andrew D. Pauls, Vikrant Sandhu, Sandra Sirrs

المصدر: Mitochondrion. 53:194-202

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8006faf9214dc687557e20ea00fcbd2Test
https://doi.org/10.1016/j.mito.2020.05.011Test

8

Understanding key worker experiences at an Australian Early Childhood Intervention Service

المؤلفون: Lisa Gibbs, Katrina Williams, Dana Young, Kim-Michelle Gilson, Dinah Reddihough, Rob Carter, Utsana Tonmukayakul, Jane Tracy

المصدر: Health & Social Care in the Community. 29

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d82646ed441fdccb9b8dc253ee9f0bf2Test
https://doi.org/10.1111/hsc.13350Test

9

Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population

المؤلفون: Dana Young, Anna Lehman, Haifa Al Zahrani, Gabriella A. Horvath, Komudi Siriwardena, Helly Goez

المصدر: Molecular genetics and metabolism. 137(4)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b90b219ad0e35bc1c1d8b5c28fd8e03fTest
https://pubmed.ncbi.nlm.nih.gov/34364746Test

10

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

المؤلفون: Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege M. Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C.J. Jongmans, Vivian Y. Chang, Julian A. Martinez-Agosto, Outi Kuismin, Mitja I. Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana S. Johnson, Katja Venborg Pedersen, Lone W. Laulund, Sally A. Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier

المساهمون: Graduate School, Clinical Genetics, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Center for Population, Health and Society, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator

المصدر: Genetics in Medicine, 21, 2723. Lippincott Williams and Wilkins
Genetics in medicine, 21(12), 2723-2733. Lippincott Williams and Wilkins
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-zTest
Genetics in Medicine, 21(12), 2723-2733. Lippincott Williams & Wilkins
Genetics in Medicine, 21, 2723-2733
Genetics in Medicine, 21(12), 2723-2733. Nature Publishing Group
Genetics in Medicine, 21, 12, pp. 2723-2733
Genetics in Medicine

مصطلحات موضوعية: Male, CCCTC-Binding Factor, Developmental Disabilities, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Transcriptome, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Drosophila Proteins, Missense mutation, TOOL, Genetics(clinical), Child, Genetics (clinical), Genetics & Heredity, Genetics, 0303 health sciences, biology, GENE ONTOLOGY, neurodevelopmental disorders, 1184 Genetics, developmental biology, physiology, HUMANS, Chromatin, 3. Good health, DROSOPHILA, Drosophila melanogaster, intellectual disability, LIBRARY, Female, INACTIVATION, Life Sciences & Biomedicine, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, DATABASE, Mutation, Missense, Article, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Gene, 030304 developmental biology, Science & Technology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Gene Expression Profiling, biology.organism_classification, medicine.disease, CTCF, Gene Expression Regulation, DE-NOVO MUTATIONS, Mutation, 030217 neurology & neurosurgery, Transcription Factors, chromatin organization

وصف الملف: text/plain; application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed9479b09188c08a5817cfef39764495Test
https://dspace.library.uu.nl/handle/1874/391976Test

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