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1Electronic Resource
المؤلفون: Layo-Carris, DE, Lubin, EE, Sangree, AK, Clark, KJ, Durham, EL, Gonzalez, EM, Smith, S, Angireddy, R, Wang, XM, Weiss, E, Mendoza-Londono, R, Dupuis, L, Damseh, N, Velasco, D, Valenzuela, I, Codina-Sola, M, Ziats, C, Have, J, Clarkson, K, Steel, D, Kurian, M, Barwick, K, Carrasco, D, Dagli, AI, Nowaczyk, MJM, Hancarova, M, Bendova, S, Prchalova, D, Sedlacek, Z, Baxova, A, Nowak, CB, Douglas, J, Chung, WK, Longo, N, Platzer, K, Kloeckner, C, Averdunk, L, Wieczorek, D, Krey, I, Zweier, C, Reis, A, Balci, T, Simon, M, Kroes, HY, Wiesener, A, Vasileiou, G, Marinakis, NM, Veltra, D, Sofocleous, C, Kosma, K, Synodinos, JT, Voudris, KA, Vuillaume, M-L, Gueguen, P, Derive, N, Colin, E, Battault, C, Au, B, Delatycki, M, Wallis, M, Gallacher, L, Majdoub, F, Smal, N, Weckhuysen, S, Schoonjans, A-S, Kooy, RF, Meuwissen, M, Cocanougher, BT, Taylor, K, Pizoli, CE, McDonald, MT, James, P, Roeder, ER, Littlejohn, R, Borja, NA, Thorson, W, King, K, Stoeva, R, Suerink, M, Nibbeling, E, Baskin, S, Guyader, GLE, Kaplan, J, Muss, C, Carere, DA, Bhoj, EJK, Bryant, LM
مصطلحات الفهرس: Journal Article
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2Electronic Resource
المؤلفون: Layo-Carris, DE, Lubin, EE, Sangree, AK, Clark, KJ, Durham, EL, Gonzalez, EM, Smith, S, Angireddy, R, Wang, XM, Weiss, E, Toutain, A, Mendoza-Londono, R, Dupuis, L, Damseh, N, Velasco, D, Valenzuela, I, Codina-Sola, M, Ziats, C, Have, J, Clarkson, K, Steel, D, Kurian, M, Barwick, K, Carrasco, D, Dagli, AI, Nowaczyk, MJM, Hancarova, M, Bendova, S, Prchalova, D, Sedlacek, Z, Baxova, A, Nowak, CB, Douglas, J, Chung, WK, Longo, N, Platzer, K, Klockner, C, Averdunk, L, Wieczorek, D, Krey, I, Zweier, C, Reis, A, Balci, T, Simon, M, Kroes, HY, Wiesener, A, Vasileiou, G, Marinakis, NM, Veltra, D, Sofocleous, C, Kosma, K, Synodinos, JT, Voudris, KA, Vuillaume, M-L, Gueguen, P, Derive, N, Colin, E, Battault, C, Au, B, Delatycki, M, Wallis, M, Gallacher, L, Majdoub, F, Smal, N, Weckhuysen, S, Schoonjans, A-S, Kooy, RF, Meuwissen, M, Cocanougher, BT, Taylor, K, Pizoli, CE, Mcdonald, MT, James, P, Roeder, ER, Littlejohn, R, Borja, NA, Thorson, W, King, K, Stoeva, R, Suerink, M, Nibbeling, E, Baskin, S, Guyader, GLE, Kaplan, J, Muss, C, Carere, DA, Bhoj, EJK, Bryant, LM
مصطلحات الفهرس: Journal Article
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3Academic Journal
المؤلفون: Layo-Carris, Dana, Lubin, Emily, Sangree, Annabel, Clark, Kelly J., Durham, Emily, Gonzalez, Elizabeth M., Valenzuela, Irene, Codina Solà, Marta
المساهمون: Institut Català de la Salut, Layo-Carris DE, Durham EL Department of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA. Lubin EE, Sangree AK, Clark KJ, Gonzalez EM Department of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA. Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Valenzuela I, Codina-Solà M Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
مصطلحات موضوعية: Fenotip, Discapacitat intel·lectual, Trastorns del desenvolupament - Aspectes genètics, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, DISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, ENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual
وصف الملف: application/pdf
Relation: European Journal of Human Genetics;32; https://doi.org/10.1038/s41431-024-01610-1; Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, et al. Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. Eur J Hum Genet. 2024 Apr;32:928–937.; https://hdl.handle.net/11351/11842; 001208822600001
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