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1دورية أكاديمية
المؤلفون: Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديمية
المؤلفون: Marie-Maude Geoffray, Bruno Falissard, Jonathan Green, Browyn Kerr, D. Gareth Evans, Susan Huson, Emma Burkitt-Wright, Shruti Garg
المصدر: Frontiers in Psychiatry, Vol 11 (2021)
مصطلحات موضوعية: ASD, RASopathies, Noonan syndrome, cardio-facio-cutaneous syndrome, neurofibromatosis type 1, early intervention, Psychiatry, RC435-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fpsyt.2020.585700/fullTest; https://doaj.org/toc/1664-0640Test
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المؤلفون: Anna Majander, Neringa Jurkute, Florence Burté, Kristian Brock, Catarina João, Houbin Huang, Magella M. Neveu, Choi Mun Chan, Holly J. Duncan, Simon Kelly, Emma Burkitt-Wright, Fadil Khoyratty, Yoon Tse Lai, Mala Subash, Patrick F. Chinnery, Maria Bitner-Glindzicz, Gavin Arno, Andrew R. Webster, Anthony T. Moore, Michel Michaelides, Andrew Stockman, Anthony G. Robson, Patrick Yu-Wai-Man
المساهمون: HUS Head and Neck Center, Clinicum, Silmäklinikka
مصطلحات موضوعية: Identification, Iscev standard, Pattern, Membrane Proteins, Visual-evoked potentials, Optic Nerve, Expression, Cohort Studies, Ophthalmology, Wfs1 gene, Optic Nerve Diseases, Disease Progression, Humans, Missense mutation, 3125 Otorhinolaryngology, ophthalmology, Atrophy, Neurodegeneration, Wolfram-syndrome, Genetic Association Studies, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0bafcd7cbf02be7d371838645096e8Test
http://hdl.handle.net/10138/346328Test -
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المؤلفون: Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibault, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e5902d3fcb4c9351932fafc42ee645c0Test
https://doi.org/10.1101/2022.07.26.501520Test -
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المؤلفون: Shruti Garg, Misty Bhandary, Gorana Pobric, Emily Pye, Jason R. Taylor, Emma Burkitt-Wright, Jonathan Green, Johan Hulleman, Hemavathy M Ramalingam, Grace Vassallo, Karolina Szumanska-Ryt, D. Gareth Evans, JeYoung Jung, Judith Eelloo, Louise Theodosiou, Louise Robinson
المصدر: Pobric, G, Taylor, J R, Ramalingam, H M, Pye, E, Robinson, L, Vassallo, G, Jung, J, Bhandary, M, Szumanska-ryt, K, Theodosiou, L, Evans, D G, Eelloo, J, Burkitt-wright, E, Hulleman, J, Green, J & Garg, S 2021, ' Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1 ', Journal of Autism and Developmental Disorders . https://doi.org/10.1007/s10803-021-05043-3Test
مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Autism Spectrum Disorder, Population, Audiology, Electroencephalography, 03 medical and health sciences, 0302 clinical medicine, Cognition, medicine, Developmental and Educational Psychology, Humans, Neurofibromatosis, Latency (engineering), education, Evoked Potentials, neoplasms, 030304 developmental biology, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, Working memory, medicine.disease, eye diseases, nervous system diseases, Electrophysiology, Memory, Short-Term, Autism, Psychology, 030217 neurology & neurosurgery
وصف الملف:
PDF ; application/pdfالوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a144875c8906a6688da289f75197dc7Test
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المؤلفون: Amish, Chinoy, Grace R, Vassallo, Emma, Burkitt Wright, Judith, Eelloo, Siobhan, West, Eileen, Hupton, Paula, Galloway, Amy, Pilkington, Raja, Padidela, M Zulf, Mughal
المصدر: Journal of musculoskeletalneuronal interactions. 22(1)
مصطلحات موضوعية: Muscle Weakness, Neurofibromatosis 1, Phenotype, Adolescent, Humans, Muscle Strength, Muscle, Skeletal
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::52eedc2189d7c7d513bc06199c391e2bTest
https://pubmed.ncbi.nlm.nih.gov/35234161Test -
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المؤلفون: Tomas S. Aleman, Patrizia Amati-Bonneau, Benoît Arveiler, Jane L. Ashworth, Isabelle Audo, Giacomo M. Bacci, Nicole Balducci, Irina Balikova, Miriam Bauwens, Piero Barboni, Johannes Birtel, Susmito Biswas, Graeme C.M. Black, Catherine Blanchet, Béatrice Bocquet, Camiel J.F. Boon, Antoine Brézin, Cyril Burin des Roziers, Emma Burkitt-Wright, Michele Callea, Michele Carbonelli, Valerio Carelli, Jasmina Cehajic-Kapetanovic, Kate E. Chandler, Aman Chandra, Jill Clayton-Smith, Johanna M. Colijn, Frauke Coppieters, Catherine A. Cukras, Avril Daly, Elfride De Baere, Julie De Zaeytijd, Arundhati Dev Borman, Hélène Dollfus, Sofia Douzgou Houge, Elizabeth C. Engle, Pascal Escher, D. Gareth Evans, Kristina Teär Fahnehjelm, Christina Fasser, Mathieu Fiore, Kaoru Fujinami, Yu Fujinami-Yokokawa, Brenda L. Gallie, Michalis Georgiou, Martin Gliem, Monika K. Grudzinska Pechhacker, Georgina Hall, Wolf M. Harmening, Robert H. Henderson, Elise Héon, Nashila Hirji, Frank G. Holz, Laryssa A. Huryn, Elizabeth A. Jones, Vasiliki Kalatzis, Arif O. Khan, Ungsoo S. Kim, Caroline C.W. Klaver, Neruban Kumaran, Chiara La Morgia, Fiona Lalloo, Eulalie Lasseaux, Helena Lee, Guy Lenaers, Eva Lenassi, Bart P. Leroy, Petra Liskova, I. Christopher Lloyd, Robert E. MacLaren, Omar A. Mahroo, Alvaro J. Mejia-Vergara, Isabelle Meunier, Michel Michaelides, Anthony T. Moore, Mariya Moosajee, Fanny Morice-Picard, Francis L. Munier, Magella M. Neveu, Erin C. O'Neil, Anna Nordenström, Neil R.A. Parry, Maria I. Patrício, Manoj V. Parulekar, Dipak Ram, Simon C. Ramsden, Johane Robitaille, Anthony G. Robson, Pierre-Raphaël Rothschild, Alfredo A. Sadun, Kaspar Schuerch, Miguel C. Seabra, Jay E. Self, Panagiotis I. Sergouniotis, Fadi Shaya, Paul A. Sieving, Ine Strubbe, Francesca Simonelli, Kent W. Small, Martin P. Snead, Karolina M. Stepien, Mays Talib, Rachel L. Taylor, Francesco Testa, Alberta A.H.J. Thiadens, Elias I. Traboulsi, Viet H. Tran, Veronika Vaclavik, Sophie Valleix, Caroline Van Cauwenbergh, Kristof Van Schil, Mary C. Whitman, Colin E. Willoughby, Kanmin Xue, Jingyan Yang, Patrick Yu-Wai-Man, Christina Zeitz, Martin Zinkernagel
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::443fea97f8aa209eb7749fe6b0bb2a99Test
https://doi.org/10.1016/b978-0-12-813944-8.09991-1Test -
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المؤلفون: Yoshua Colyn Collins‐Sawaragi, Rosalie Ferner, Grace Vassallo, Germana De Agrò, Simon Eccles, Jill Cadwgan, Darren Hargrave, Eileen Hupton, Judith Eelloo, Lauren Lunt, Vivian Tang, Emma Burkitt Wright, Karine Lascelles
المصدر: American journal of medical genetics. Part AREFERENCES. 188(6)
مصطلحات موضوعية: Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, Neurofibromatosis 1, Adolescent, Child, Preschool, Genetics, Humans, Infant, Child, Protein Kinase Inhibitors, Genetics (clinical), Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abcd58c8aefc150fb2f6c9b25becf532Test
https://pubmed.ncbi.nlm.nih.gov/35178860Test -
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المؤلفون: D. Gareth Evans, K Joshi George, John Ealing, Emma Burkitt Wright, Calvin Soh, Konstantina Karabatsou, Carlos M. Curtis-Lopez, Grace Vassallo
المصدر: Journal of Clinical Neuroscience. 77:98-105
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Neurofibromatoses, Nerve root, Scoliosis, Spinal Curvatures, Lesion, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Humans, Medicine, Spinal Cord Neoplasms, Neurofibromatosis, Retrospective Studies, Neurological deficit, Retrospective review, Neurofibroma, business.industry, Incidence, Dural ectasia, General Medicine, Middle Aged, medicine.disease, Spine, United Kingdom, nervous system diseases, Neurology, 030220 oncology & carcinogenesis, Spinal deformity, Female, Surgery, Neurology (clinical), Radiology, medicine.symptom, Spinal Nerve Roots, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::994de06838d49ad1a576081fa5edca1aTest
https://doi.org/10.1016/j.jocn.2020.05.014Test -
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المؤلفون: Leon Au, Emma Burkitt-Wright, Andrew Walkden
المصدر: Clinical Ophthalmology. 13:1511-1516
مصطلحات موضوعية: Brittle cornea, Brittle cornea syndrome, Connective Tissue Disorder, medicine.medical_specialty, Stromal thinning, genetic structures, business.industry, Perforation (oil well), Treatment options, eye diseases, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, Corneal thinning, Ectasia, 030221 ophthalmology & optometry, Medicine, sense organs, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::010b2d68105dac4ba9fbcf25a634cb3cTest
https://doi.org/10.2147/opth.s185287Test