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1دورية أكاديمية
المؤلفون: Laura Groves, Joanna Moss, Chris Oliver, Rachel Royston, Jane Waite, Hayley Crawford
المصدر: Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-13 (2022)
مصطلحات موضوعية: Anxiety, Genetic syndromes, Fragile X syndrome, Cornelia de Lange syndrome, Intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Laura Groves, Joanna Moss, Hayley Crawford, Lisa Nelson, Chris Stinton, Gursharan Singla, Chris Oliver
المصدر: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-9 (2019)
مصطلحات موضوعية: Mood, Affect, Trajectory, Cornelia de Lange syndrome, Fragile X syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
المصدر: Journal of Neurodevelopmental Disorders, Vol 9, Iss 1, Pp 1-12 (2017)
مصطلحات موضوعية: Cornelia de Lange, CdLS, Executive functioning, Behavioural phenotype, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Chris Oliver, Laura Groves, Blake D. Hansen, Masoud Salehi, Shaydah Kheradmand, Cheri S. Carrico, Patti Caudill, Mark Mattingly, Dale Dorsett, Stephenson Chea, Vijay Pratap Singh, Ian D. Krantz, Sylvia Huisman, Matthew A. Deardorff, Antonie D. Kline
المصدر: American Journal of Medical Genetics Part A. 188:1005-1014
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Hayley Crawford, Chris Oliver, Laura Groves, Louise Bradley, Kayla Smith, Abigail Hogan, Derek Renshaw, Jane Waite, Jane Roberts
المصدر: Psychiatry Research. :115278
مصطلحات موضوعية: Psychiatry and Mental health, Biological Psychiatry
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المؤلفون: Chris Oliver, Joanna Moss, Laura Groves, Sotaro Kita, Effie Pearson, Lisa Nelson, Eva Nielsen
المصدر: Journal of Intellectual Disability Research. 65:601-607
مصطلحات موضوعية: 030506 rehabilitation, Down syndrome, medicine.medical_specialty, Cornelia de Lange Syndrome, RJ101, media_common.quotation_subject, BF, Audiology, 03 medical and health sciences, Arts and Humanities (miscellaneous), De Lange Syndrome, Intellectual Disability, Intellectual disability, medicine, Humans, Speech, Expressive communication, 0501 psychology and cognitive sciences, Conversation, media_common, Gestures, 05 social sciences, Rehabilitation, medicine.disease, P1, Psychiatry and Mental health, Neurology, Neurology (clinical), Down Syndrome, 0305 other medical science, Psychology, Speech rate, 050104 developmental & child psychology, Gesture, Spoken language
وصف الملف: application/pdf
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المؤلفون: Chris Oliver, Katherine Ellis, Georgie Agar, Stacey Bissell, Justin Cheuk Yin Chung, Hayley Crawford, Effie Pearson, Kelly Wade, Jane Waite, Debbie Allen, Lucy Deeprose, Georgina Edwards, Lauren Jenner, Breanne Kearney, Lauren Shelley, Kayla Smith, Hayley Trower, Dawn Adams, Louise Daniel, Laura Groves, Mary Heald, Jo Moss, Caroline Richards, Rachel Royston, Joanne Tarver, Alice Welham, Lucy Wilde, Kate Woodcock
المصدر: Contemporary Issues in Evaluating Treatment Outcomes in Neurodevelopmental Disorders ISBN: 9780323988834
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e952a66a49a0eadef58ad1adc3963576
https://doi.org/10.1016/bs.irrdd.2022.05.004 -
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المؤلفون: Chris Oliver, Anna Cereda, Julia O'Connor, Claudia Rigamonti, Ingrid D. C. van Balkom, Whitney Guthrie, David R. FitzPatrick, Paul A. Mulder, Angell Shi, Sylvia A. Huisman, Stacey L. Ishman, Matthew A. Deardorff, Lynne M. Kerr, Sigrid Piening, Joseph P. McCleery, Valérie Cormier-Daire, Peter M. Gillett, David Axtell, Antonella Costantino, Egbert J.W. Redeker, Carol J. Potter, Alex V. Levin, Angelo Selicorni, Raoul C.M. Hennekam, Natalie Blagowidow, Marco A. Grados, Mary Levis, Feliciano J. Ramos, Frank J. Kaiser, Zeynep Tümer, Joanna Moss, Juan Pié, Gerritjan Koekkoek, Laura Groves, Milena Mariani, Paola Francesca Ajmone, Amy Metrena, Ana L. Quaglio, Anne Marie Bisgaard, Leonie A. Menke, Jolanta Wierzba, Antonie D. Kline, David M. Richman
المصدر: Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tumer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews Genetics, vol. 19, no. 10, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0
Nature Reviews. Genetics
Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tümer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews. Genetics, vol. 19, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, Genetic testing, Cornelia de Lange Syndrome, Genetic syndromes, Cohesin complex, Statement (logic), BRACHMANN-DELANGE-SYNDROME, Signs and symptoms, Biology, 03 medical and health sciences, De Lange Syndrome, Intellectual disability, Genetics, medicine, Humans, Clinical genetics, Psychiatry, Molecular Biology, Genetic Association Studies, Genetics (clinical), GENOTYPE-PHENOTYPE CORRELATIONS, Genetic counselling, Disease genetics, AUTISM SPECTRUM DISORDER, Medical genetics, Consensus Statement, SELF-INJURIOUS-BEHAVIOR, High-Throughput Nucleotide Sequencing, Molecular diagnostics, medicine.disease, CONGENITAL DIAPHRAGMATIC-HERNIA, 030104 developmental biology, DU-CHAT-SYNDROMES, OF-THE-LITERATURE, AUTOSOMAL-DOMINANT INHERITANCE, Mutation, Marked heterogeneity, RUBINSTEIN-TAYBI SYNDROMES, TO-MALE TRANSMISSION
وصف الملف: application/pdf
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المؤلفون: Alexej Abyzov, Kevin Cameron Allan, Anahita Amiri, Heather M. Brown, Anne L. Calof, Qiang Chang, Kimberly M. Christian, Benjamin L.L. Clayton, Francesca Cucinotta, Alissa M. D'Gama, Mathew Sean Elitt, L. Fernandez, R. Holly Fitch, Jeffrey A. Golden, Laura Groves, R.J. Hagerman, Eric Jaffe, B.L. Johnson-Kerner, Alexandre Jourdon, Arthur D. Lander, M.J. Leigh, Youngshin Lim, A.H. Mahnke, Jessica Mariani, Guo-li Ming, R.C. Miranda, S.M. Mooney, Jeffrey L. Neul, Zachary Scott Nevin, Lee Niswander, Christopher Oliver, Antonio M. Persico, Sofia A. Pezoa, Christina Pyrgaki, Lawrence T. Reiter, Arianna Ricciardello, Edward Rubenstein, Mustafa Sahin, Rosaysela Santos, Soraya Scuderi, E.H. Sherr, Hongjun Song, Siddharth Srivastava, Paul J. Tesar, Laura Turriziani, Flora M. Vaccarino, Christopher A. Walsh, Feinan Wu, Eunice Y. Yuen
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::647b4f4ae80f0afd2ea6367a538313df
https://doi.org/10.1016/b978-0-12-814409-1.01002-8