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1دورية أكاديمية
المؤلفون: Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network, Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann
المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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2دورية أكاديمية
المؤلفون: Joseph Biddle, Teresa Campbell, Alba Sanchis-Juan, Gabrielle Lemire, Lance Rodan, Melanie O'Leary, Christina Austin-Tse, Anne O'Donnell-Luria, Laurie Sadler
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101136- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424002826Test; https://doaj.org/toc/2949-7744Test
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3دورية أكاديمية
المؤلفون: Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101481- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006277Test; https://doaj.org/toc/2949-7744Test
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4دورية أكاديمية
المؤلفون: Simon N. Leonard, Lisa O’Keeffe, Bruce White, Melanie O’Leary, Karen Sloan
المصدر: Education Sciences, Vol 12, Iss 10, p 709 (2022)
مصطلحات موضوعية: STEM practices, socio-scientific decision making, practice theory, practice architectures, STEM, Catholic education, Education
وصف الملف: electronic resource
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5
المؤلفون: Dana, Tischler, Melanie, O'Leary
المصدر: Pediatric Physical Therapy. 34:556-562
مصطلحات موضوعية: Parents, Yoga, Pediatrics, Perinatology and Child Health, Quality of Life, Humans, Physical Therapy, Sports Therapy and Rehabilitation, Child, Physical Therapy Modalities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14cf4bfbeb383658023fe6a9edc076c0Test
https://doi.org/10.1097/pep.0000000000000950Test -
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المؤلفون: Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen
المساهمون: Leiden University Medical Center (LUMC), Universiteit Leiden, Erasmus University Medical Center [Rotterdam] (Erasmus MC), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Rouen, Normandie Université (NU), Columbia University Medical Center (CUMC), Columbia University [New York], Baylor College of Medicine (BCM), Baylor University, This work was supported, in part, by grants from the National Institutes of Health (Grant No. R01 MH101221 [to E.E.E.]). E.E.E. is an investigator of the Howard Hughes Medical Institute.Sequencing and analysis for individual 30 was provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics and was funded by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung, and Blood Institute (Grant Nos. UM1 HG008900 and R01 HG009141).Sequencing and analysis of cases 5 and 18 was funded by the National Institute of Child Human Development (Grant Nos. K23 HD088742 and R01 HD105868 [to N.L.V.])., Emergency Medicine, Clinical Genetics, van der Sluijs, Pleuntje J, Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Arts, Peer, Byrne, Alicia, Scott, Hamish S, Santen, Gijs WE
المصدر: van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, ' Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760 . https://doi.org/10.1016/j.gim.2022.04.010Test
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INCمصطلحات موضوعية: prenatal, genetic association, Chromosomal Proteins, Non-Histone, Micrognathism, SMARCB1, genetic vulnerability, Article, Fetal, SMARCA4, Intellectual Disability, Humans, Coffin-Siris syndrome, Abnormalities, Multiple, Genetic Association Studies, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], BAF-complex, SMARCB, ARID1A, ARID1B BAFopathy, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Face, abnormalities, Hand Deformities, Congenital, Neck
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302232c268a34e8154eb121a3a262accTest
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxKTest -
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المؤلفون: Jillian G Serrano, Melanie O’Leary, Grace VanNoy, Ingrid A Holm, Yarden S Fraiman, Heidi L Rehm, Anne O’Donnell-Luria, Monica H Wojcik
المصدر: medRxiv
مصطلحات موضوعية: Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a09e1cf292b1a06915ab1c1733c5ea77Test
https://doi.org/10.1101/2023.03.28.23286936Test -
8
المؤلفون: Lynn S. Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha M. Baxter, Stephanie DiTroia, Emily O'Heir, Eleina England, Katherine R. Chao, Gabrielle Lemire, Ikeoluwa Osei‐Owusu, Grace E. VanNoy, Michael Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O'Leary, Alysia Lovgren, Lawrence Babb, Christina A. Austin‐Tse, Heidi L. Rehm, Daniel G. MacArthur, Anne O'Donnell‐Luria
المصدر: Hum Mutat
مصطلحات موضوعية: Internet, Rare Diseases, Genetics, Humans, Exome, Genomics, Genetics (clinical), Software, Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90c9188229c0d21b0aabda26996efacfTest
https://pubmed.ncbi.nlm.nih.gov/35266241Test -
9
المؤلفون: Lauren Brady, Bryan E. Hainline, Konrad Platzer, Muhammad Zafar, Corinna Powell, Darcy J. Huismann, Heather C Mefford, Afnan Alhakeem, Daniel G. MacArthur, Alison M. Muir, Trevor L Hoffman, Mark A. Tarnopolsky, François Lecoquierre, Lindsay Rhodes, Tilman Polster, Susanne Axer-Schaefer, Alice Goldenberg, Katherine Sapp, Caoimhe S. McKenna, Jasper J. van der Smagt, Tara Montgomery, Eleina M. England, Brianna K. Murray, Myriam Srour, Lia Zitano, William B. Dobyns, Grace Noh, Angela F. Brady, Lindsey Sawyer, Ingrid M. Wentzensen, Holly Dubbs, Jane Juusola, Richard Caswell, Richard H. van Jaarsveld, Danielle DeMarzo, Samantha A. Schrier Vergano, Caleb Bupp, Grace E. VanNoy, Jose E. Martinez, Melanie O’Leary, Iris M de Lange, Shane McKee, Golder N. Wilson, Rhonda E. Schnur, Meira Meltzer, Vinod Varghese, Kristin G. Monaghan, Carole Brewer, Carolyn Tysoe, Jennifer F. Gardner, Ethan M. Goldberg, Shelagh Joss, Andrea Accogli, Chiara Klöckner, Andrea L. Gropman, Pradeep C. Vasudevan
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Developmental Disabilities, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Epilepsy, Neurodevelopmental disorder, Seizures, Intellectual Disability, Intellectual disability, Exome Sequencing, medicine, Humans, Global developmental delay, Child, Genetics (clinical), Exome sequencing, Genetics, Genetic heterogeneity, medicine.disease, Hypotonia, 030104 developmental biology, Neurodevelopmental Disorders, Autism, Muscle Hypotonia, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f39d7ecf75b0a621e71302f68a639bbTest
http://europepmc.org/articles/PMC8107131Test -
10
المؤلفون: Michael Zech, Robert Kopajtich, Katja Steinbrücker, Céline Bris, Naig Gueguen, René G. Feichtinger, Melanie T. Achleitner, Neslihan Duzkale, Maximilien Périvier, Johannes Koch, Harald Engelhardt, Peter Freisinger, Matias Wagner, Theresa Brunet, Riccardo Berutti, Dmitrii Smirnov, Tharsini Navaratnarajah, Richard J.T. Rodenburg, Lynn S Pais, Christina Austin‐Tse, Melanie O'Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C Kruer, Saskia B. Wortmann, Matthias Eckenweiler, Johannes A. Mayr, Felix Distelmaier, Robert Steinfeld, Juliane Winkelmann, Holger Prokisch
المصدر: Annals of Neurology, 91, 225-237
Ann Neurol
Annals of Neurology, 91, 2, pp. 225-237مصطلحات موضوعية: Models, Molecular, Proteomics, Epilepsy, Mitochondrial Diseases, Mutation, Missense, Genetic Variation, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Neurodegenerative Diseases, Mitochondrial Proton-Translocating ATPases, Article, Mitochondria, Pedigree, ddc, Dystonia, Phenotype, Neurology, Neurodevelopmental Disorders, Mutation, Exome Sequencing, Humans, Neurology (clinical), Nervous System Diseases, Mitochondrial ADP, ATP Translocases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf58a23e912f8d39b851e9a8f62fa265Test
https://doi.org/10.1002/ana.26293Test