المؤلفون: Baker, Emma K., Arora, Sheena, Amor, David J., Date, Perrin, Cross, Meagan, O'Brien, James, Simons, Chloe, Rogers, Carolyn, Goodall, Stephen, Slee, Jennie, Cahir, Chris, Godler, David E.

المصدر: Journal of Autism and Developmental Disorders. Apr 2023 53(4):1682-1692.

Peer Reviewed: Y

Page Count: 11

Descriptors: Costs, Child Rearing, Genetic Disorders, Severity (of Disability), Foreign Countries, Autism Spectrum Disorders, Predictor Variables

مصطلحات جغرافية: Australia

المؤلفون: HA, Thoa, MORGAN, Angela, BARTOS, Meghan N, BEATTY, Katelyn, COGNÉ, Benjamin, BRAUN, Dominique, GERBER, Céline B, GASPAR, Harald, KOPPS, Anna M, RIEUBLAND, Claudine, HURST, Anna C E, AMOR, David J, NIZON, Mathilde, PASQUIER, Laurent, PFUNDT, Rolph, REIS, André, SIU, Victoria Mok, TESSARECH, Marine, THOMPSON, Michelle L, VINCENT, Marie, DE VRIES, Bert B A, WALSH, Matthew B, WECHSLER, Stephanie Burns, ZWEIER, Christiane, SCHNUR, Rhonda E, GUILLEN SACOTO, Maria J, MARGOT, Henri, MASOTTO, Barbara, PALAFOLL, Maria Irene Valenzuela, NAWAZ, Urwah, VOINEAGU, Irina, SLAVOTINEK, Anne

مصطلحات موضوعية: Developmental delay, DIP2, DIP2C, Intellectual disability, Speech articulation, Speech delay, Sciences du Vivant [q-bio]/Génétique

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/204056
https://hdl.handle.net/20.500.12278/204056
https://doi.org/10.1002/ajmg.a.63559

المؤلفون: Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Oflazer, Piraye, Başak, Nazli A., Kayserili, Hülya, Yeşil, Gözde, Malfatti, Edoardo, Lilleker, James B., Wicklund, Matthew, Pitceathly, Robert D. S., Brady, Stefen, Brais, Bernard, Pellerin, David

المصدر: Nature Communications ; volume 15, issue 1 ; ISSN 2041-1723

الاتاحة: https://doi.org/10.1038/s41467-024-53151-2
https://www.nature.com/articles/s41467-024-53151-2.pdf
https://www.nature.com/articles/s41467-024-53151-2

المؤلفون: Horton, Sarah, Jackson, Victoria, Boyce, Jessica, Franken, Marie Christine, Siemers, Stephanie, John, Miya St, Hearps, Stephen, van Reyk, Olivia, Braden, Ruth, Parker, Richard, Vogel, Adam P., Eising, Else, Amor, David J., Irvine, Janelle, Fisher, Simon E., Martin, Nicholas G., Reilly, Sheena, Bahlo, Melanie, Scheffer, Ingrid, Morgan, Angela

المصدر: Horton , S , Jackson , V , Boyce , J , Franken , M C , Siemers , S , John , M S , Hearps , S , van Reyk , O , Braden , R , Parker , R , Vogel , A P , Eising , E , Amor , D J , Irvine , J , Fisher , S E , Martin , N G , Reilly , S , Bahlo , M , Scheffer , I & Morgan , A 2024 , ' Self-Reported Stuttering Severity Is Accurate : Informing Methods for Large-Scale ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/d245420f-7800-494c-9eb5-fdf04132e0d4
https://doi.org/10.1044/2023_JSLHR-23-00081
https://pure.eur.nl/ws/files/180496744/Horton_et_al_2024.pdf
http://www.scopus.com/inward/record.url?scp=85207665114&partnerID=8YFLogxK

المؤلفون: Forbes, Elana, J, Morison, Lottie, D, Lelik, Fatma, Howell, Tegan, Debono, Simone, Goel, Himanshu, Burger, Pauline, Mandel, Jean‐louis, Geneviève, David, Amor, David, J, Morgan, Angela, T

المساهمون: Monash University Melbourne, Newcastle University Newcastle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), University of Melbourne

المصدر: ISSN: 1552-4841 ; EISSN: 1552-485X.

مصطلحات موضوعية: DDX3X, developmental delay, intellectual disability, language, neurodevelopment, speech, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, [SCCO.LING]Cognitive science/Linguistics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الاتاحة: https://cnrs.hal.science/hal-04567609
https://cnrs.hal.science/hal-04567609v1/document
https://cnrs.hal.science/hal-04567609v1/file/Forbes%20Morison%20et%20al_2024_Speech%20and%20language%20in%20DDX3X%E2%80%90neurodevelopmental%20disorder.pdf
https://doi.org/10.1002/ajmg.b.32971

المؤلفون: Morison, Lottie D, Kennis, Milou GP, Rots, Dmitrijs, Bouman, Arianne, Kummeling, Joost, Palmer, Elizabeth, Vogel, Adam P, Liegeois, Frederique, Brignell, Amanda, Srivastava, Siddharth, Frazier, Zoe, Milnes, Di, Goel, Himanshu, Amor, David J, Scheffer, Ingrid E, Kleefstra, Tjitske, Morgan, Angela T

المصدر: Journal of Medical Genetics (2024) (In press).

مصطلحات موضوعية: CHILDREN, COMMUNICATION, Genetics & Heredity, Genetics, Behavioral, Human Genetics, Life Sciences & Biomedicine, Neurology, Pediatrics, Phenotype, SCALE, Science & Technology, SLEEP

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10189987/1/Morison_KleefstraSyndrome_acceptedManuscript.pdf; https://discovery.ucl.ac.uk/id/eprint/10189987/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10189987/1/Morison_KleefstraSyndrome_acceptedManuscript.pdf
https://discovery.ucl.ac.uk/id/eprint/10189987/

المؤلفون: Turbitt, Erin, Callinan, Elizabeth, Shakes, Pieta, McEwen, Alison, Amor, David J.

وصف الملف: application/pdf

Relation: https://doi.org/10.1007/s40474-024-00291-1; https://researchonline.jcu.edu.au/81711/; https://researchonline.jcu.edu.au/81711/1/81711.pdf; Turbitt, Erin, Callinan, Elizabeth, Shakes, Pieta, McEwen, Alison, and Amor, David J. (2024) Fostering Hope and Acknowledging Uncertainty: Meeting Parents' Needs and Preferences When Communicating Prognosis in Genetic Neurodevelopmental Conditions. Current Developmental Disorders Reports, 11. pp. 21-31.

الاتاحة: https://researchonline.jcu.edu.au/81711/1/81711.pdf

المؤلفون: Morison, Lottie D., Kennis, Milou G.P., Rots, Dmitrijs, Bouman, Arianne, Kummeling, Joost, Palmer, Elizabeth, Vogel, Adam P., Liegeois, Frederique, Brignell, Amanda, Srivastava, Siddharth, Frazier, Zoe, Milnes, Di, Goel, Himanshu, Amor, David J., Scheffer, Ingrid E., Kleefstra, Tjitske, Morgan, Angela T.

مصطلحات موضوعية: Neurogenetics

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/61/6/578; http://dx.doi.org/10.1136/jmg-2023-109702

الاتاحة: http://jmg.bmj.com/cgi/content/short/61/6/578
https://doi.org/10.1136/jmg-2023-109702

المؤلفون: Donoghue, Sarah E, Amor, David J

المساهمون: National Health and Medical Research Council, Lorenzo and Pamela Galli Charitable Trust

المصدر: Journal of Paediatrics and Child Health ; volume 60, issue 7, page 273-278 ; ISSN 1034-4810 1440-1754

الاتاحة: http://dx.doi.org/10.1111/jpc.16598
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jpc.16598

المؤلفون: Cooper, Monica S., Antolovich, Giuliana C., Fahey, Michael C., Amor, David J.

المصدر: Child: Care, Health and Development ; volume 50, issue 3 ; ISSN 0305-1862 1365-2214

الاتاحة: https://doi.org/10.1111/cch.13258
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cch.13258

المؤلفون: Shepherd, Daisy A., Amor, David J., Moreno‐Betancur, Margarita

المساهمون: National Health and Medical Research Council

المصدر: Developmental Medicine & Child Neurology ; ISSN 0012-1622 1469-8749

الاتاحة: http://dx.doi.org/10.1111/dmcn.15948
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15948

المؤلفون: Meng, Yan, Best, Stephanie, Amor, David J., Braden, Ruth, Morgan, Angela T., Goranitis, Ilias

المساهمون: Royal Children's Hospital

المصدر: European Journal of Human Genetics ; volume 32, issue 4, page 440-447 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-024-01534-w
https://www.nature.com/articles/s41431-024-01534-w.pdf
https://www.nature.com/articles/s41431-024-01534-w

المؤلفون: Ha, Thoa, Morgan, Angela, Bartos, Meghan N, Beatty, Katelyn, Cogné, Benjamin, Braun, Dominique, Gerber, Céline B, Gaspar, Harald, Kopps, Anna M, Rieubland, Claudine, Hurst, Anna C E, Amor, David J, Nizon, Mathilde, Pasquier, Laurent, Pfundt, Rolph, Reis, André, Siu, Victoria Mok, Tessarech, Marine, Thompson, Michelle L, Vincent, Marie, de Vries, Bert B A, Walsh, Matthew B, Wechsler, Stephanie Burns, Zweier, Christiane, Schnur, Rhonda E, Guillen Sacoto, Maria J, Margot, Henri, Masotto, Barbara, Palafoll, Maria Irene Valenzuela, Nawaz, Urwah, Voineagu, Irina, Slavotinek, Anne

المصدر: Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; . (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A, 194(7), e63559. Wiley-Liss 10.1002/ajmg.a.63559

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/193646/

الاتاحة: https://boris.unibe.ch/193646/1/American_J_of_Med_Genetics_Pt_A_-_2024_-_Ha_-_De_novo_variants_predicting_haploinsufficiency_for_DIP2C_are_associated_with.pdf
https://boris.unibe.ch/193646/

المؤلفون: Lunke, Sebastian, Bouffler, Sophie E, Downie, Lilian, Caruana, Jade, Amor, David J, Archibald, Alison, Bombard, Yvonne, Christodoulou, John, Clausen, Marc, De Fazio, Paul, Greaves, Ronda F, Hollizeck, Sebastian, Kanga-Parabia, Anaita, Lang, Nitzan, Lynch, Fiona, Peters, Riccarda, Sadedin, Simon, Tutty, Erin, Eggers, Stefanie, Lee, Crystle, Wall, Meaghan, Yeung, Alison, Gaff, Clara, Gyngell, Christopher, Vears, Danya F, Best, Stephanie, Goranitis, Ilias, Stark, Zornitza

المصدر: BMJ Open ; volume 14, issue 4, page e081426 ; ISSN 2044-6055 2044-6055

الاتاحة: http://dx.doi.org/10.1136/bmjopen-2023-081426
https://syndication.highwire.org/content/doi/10.1136/bmjopen-2023-081426

المؤلفون: Donoghue, Sarah, Wright, Jordan, Voss, Anne K., Lockhart, Paul J., Amor, David J.

المساهمون: National Health and Medical Research Council

المصدر: Molecular Genetics and Metabolism ; volume 142, issue 1, page 108360 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2024.108360
https://api.elsevier.com/content/article/PII:S1096719224002452?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719224002452?httpAccept=text/plain

المؤلفون: Morison, Lottie D., Van Reyk, Olivia, Baker, Emma, Ruaud, Lyse, Couque, Nathalie, Verloes, Alain, Amor, David J., Morgan, Angela T.

المصدر: European Journal of Medical Genetics ; volume 68, page 104923 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2024.104923
https://api.elsevier.com/content/article/PII:S1769721224000156?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721224000156?httpAccept=text/plain

المؤلفون: Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier

المساهمون: NIH, NHGRI, Takeda Science Foundation, AMED, National Research Foundation of Korea

المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 487-508 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.01.007
https://api.elsevier.com/content/article/PII:S0002929724000077?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724000077?httpAccept=text/plain

المؤلفون: Leffler, Melanie, Christie, Louise, Hackett, Anna, Bennetts, Bruce, Goel, Himanshu, Amor, David J., Peters, Greg B., Field, Michael, Dudding-Byth, Tracy

المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health

مصطلحات موضوعية: dosage sensitive gene, GDI1, Xq28, chromosomes

Relation: Clinical Genetics Vol. 103, Issue 6, p. 681-687; http://hdl.handle.net/1959.13/1482156; uon:50870

الاتاحة: http://hdl.handle.net/1959.13/1482156

المؤلفون: Kraan, Claudine M, Bui, Minh, Archibald, Alison, Davison, Sonia, Cvejic, Rachel C, Metcalfe, Sylvia, Amor, David J, Trollor, Julian N, Cohen, Jonathan, Cornish, Kim

المصدر: urn:ISSN:2949-7744 ; Genetics in Medicine Open, 1, 1, 100829

مصطلحات موضوعية: Mental Health, Clinical Research, Pain Research, Brain Disorders, Behavioral and Social Science, Chronic Pain, Depression, Basic Behavioral and Social Science, Mind and Body, 7 Management of diseases and conditions, 2.3 Psychological, social and economic factors, 7.1 Individual care needs, 2 Aetiology, 3 Good Health and Well Being

Relation: http://hdl.handle.net/1959.4/unsworks_84638; https://doi.org/10.1016/j.gimo.2023.100829

الاتاحة: http://hdl.handle.net/1959.4/unsworks_84638
https://doi.org/10.1016/j.gimo.2023.100829

المؤلفون: Morison, Lottie D, Meffert, Elisabeth, Stampfer, Miriam, Steiner-Wilke, Irene, Vollmer, Brigitte, Schulze, Katrin, Briggs, Tracy, Braden, Ruth, Vogel, Adam, Thompson-Lake, Daisy, Patel, Chirag, Blair, Edward, Goel, Himanshu, Turner, Samantha, Moog, Ute, Riess, Angelika, Liegeois, Frederique, Koolen, David A, Amor, David J, Kleefstra, Tjitske, Fisher, Simon E, Zweier, Christiane, Morgan, Angela T

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

Relation: https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/23220; urn:nbn:de:bvb:29-opus4-232206; https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-232206; https://doi.org/10.1136/jmg-2022-108734; https://opus4.kobv.de/opus4-fau/files/23220/jmg-2022-108734.pdf

الاتاحة: https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/23220
https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-232206
https://doi.org/10.1136/jmg-2022-108734
https://opus4.kobv.de/opus4-fau/files/23220/jmg-2022-108734.pdf