المؤلفون: Greene, Daniel^{Aff1, Aff2}, Thys, Chantal, Berry, Ian R.^{Aff4, Aff5}, Jarvis, Joanna, Ortibus, Els^{Aff7, Aff8}, Mumford, Andrew D.^{Aff5, Aff9}, Freson, Kathleen, Turro, Ernest^{Aff1, Aff2, Aff10, Aff11, IDs41591024030855_cor8}

المصدر: Nature Medicine. 30(8):2165-2169

المؤلفون: Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander JM, Goodman, Sarah J, Siu, Michelle T, Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert BA, Deden, A Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance TRM, Stevens, Servi JC, Vermeulen, Jeroen R, van Harssel, Jeske VT, Bosch, Danielle GM, van Gassen, Koen LI, van Binsbergen, Ellen, de Geus, Christa M, Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M, Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B, Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W, Berry, Ian R, Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M, Radley, Jessica A, Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G, Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata JM, Cohn, Ronald D, Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W, Brunner, Han G, Vissers, Lisenka ELM, Kleefstra, Tjitske, Koolen, David A, Weksberg, Rosanna

المصدر: American Journal of Human Genetics. 108(6)

مصطلحات موضوعية: Genetics, Clinical Research, Brain Disorders, Mental Health, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Adenosine Triphosphatases, Case-Control Studies, Cohort Studies, Craniofacial Abnormalities, DNA Methylation, Epigenesis, Genetic, Female, Genetic Predisposition to Disease, Growth Disorders, Heart Septal Defects, Ventricular, Humans, Infant, Newborn, Male, Mutation, Neurodevelopmental Disorders, Phenotype, DNA methylation signature, Floating-Harbor syndrome, SRCAP, epigenomics, genotype-phenotype correlation, intellectual disability, neurodevelopmental disorders, non-FLHS SRCAP-related NDD, nonsense-mediated decay, speech delay, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/16q9g96p

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المؤلفون: von Salomé, Jenny, Liu, Tao, Keihäs, Markku, Morak, Moni^{Aff3, Aff4}, Holinski-Feder, Elke^{Aff3, Aff4}, Berry, Ian R., Moilanen, Jukka S.^{Aff6, Aff7}, Baert-Desurmont, Stéphanie, Lindblom, Annika, Lagerstedt-Robinson, Kristina^Aff1

المصدر: Familial Cancer. 17(4):531-537

المؤلفون: Greene, Daniel, Thys, Chantal, Berry, Ian R., Jarvis, Joanna, Ortibus, Els, Mumford, Andrew D., Freson, Kathleen, Turro, Ernest

المصدر: Nature Medicine; 20240101, Issue: Preprints p1-5, 5p

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المؤلفون: Farrell, Michael P., Hughes, David J., Berry, Ian R., Gallagher, David J., Glogowski, Emily A., Payne, Stewart J., Kennedy, Michael J., Clarke, Róisín M., White, Susan A., Muldoon, Cian B., Macdonald, Fiona, Rehal, Pauline, Crompton, Danielle, Roring, Solvig, Duke, Sarah T., McDevitt, Trudi, Barton, David E., Hodgson, Shirley V., Green, Andrew J., Daly, Peter A.

المصدر: Familial Cancer. September 2012 11(3):509-518

المؤلفون: Garrett, Alice, Callaway, Alison, Durkie, Miranda, Cubuk, Cankut, Alikian, Mary, Burghel, George, Robinson, Rachel, Izatt, Louise, Talukdar, Sabrina, Side, Lucy E., Cranston, Treena, Palmer-Smith, Sheila, Baralle, Diana, Berry, Ian R., Norbury, G., Eccles, Diana, Ellard, Sian, Lalloo, Fiona, Evans, D. Gareth, Woodward, Emma, Tischowitz, Marc, Hanson, Helen, Turnbull, Clare

وصف الملف: application/octet-stream; slideshow

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______348::5ae7703ee34b6eeac465730adfe96933
https://eprints.soton.ac.uk/438402/