Výsledky vyhledávání

Microcephaly-chorioretinopathy syndrome, autosomal recessive form: a case report Autor Rosa, Rafael Fabiano Machado, Enk, Flávia, Camargo, Korine, Travi, Giovanni Marco, Freitas, André, Rosa, Rosana Cardoso Manique, Graziadio, Carla, Mattos, Vinicius Freitas de, Zen, Paulo Ricardo Gazzola

Získat plný text

Bariatric surgery in individuals with severe cognitive impairment: report of two cases Autor Cazzo, Everton, Gestic, Martinho Antonio, Utrini, Murillo Pimentel, Chaim, Felipe David Mendonça, Cândido, Elaine Cristina, Jarolavsky, Luciana Bueno da Silveira, Almeida, Ana Maria Neder de, Pareja, José Carlos, Chaim, Elinton Adami

Získat plný text

Evaluation of podiatric disorders in a sample of children with intellectual disabilities: an analytical cross-sectional study Autor Cala-Pérez, Laura, Losa-Iglesias, Marta Elena, Rodríguez-Sanz, David, Calvo-Lobo, César, López-López, Daniel, Becerro-de-Bengoa-Vallejo, Ricardo

Získat plný text

Self-injurious, aggressive and destructive behaviour in children with severe intellectual disability: Prevalence, service need and service receipt in the UK Autor Loraine Ruddick, Louise Davies, Monique Bacarese-Hamilton, Chris Oliver

Získat plný text

Excess Protein Synthesis in FXS Patient Lymphoblastoid Cells Can Be Rescued with a p110β-Selective Inhibitor Autor Christina Groß, Gary J. Bassell

Získat plný text Získat plný text

Place of Residence and Preventive Health Care for Intellectual and Developmental Disabilities Services Recipients in 20 States Autor Julie Bershadsky, Sarah F. Taub, Joshua Engler, Charles R. Moseley, K. Charlie Lakin, Roger J. Stancliffe, Sheryl A. Larson, Renáta Tichá, Caitlin E. Bailey, Valerie J. Bradley

Získat plný text

Longitudinal Examination of Adaptive Behavior in Autism Spectrum Disorders: Influence of Executive Function Autor Cara Pugliese, Laura G. Anthony, John F. Strang, Katerina Dudley, Gregory L. Wallace, Daniel Q. Naiman, Lauren Kenworthy

Získat plný text

Phelan McDermid Syndrome Autor Hala Harony‐Nicolas, Silvia De Rubeis, Alexander Kolevzon, Joseph D. Buxbaum

Získat plný text

Loss-of-function variants in HIVEP2 are a cause of intellectual disability Autor Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M. Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie S. Cohen, Alexander M. Zink, Sakkubai Naidu

Získat plný text Získat plný text

<i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease Autor Julia Vodopiutz, Rainer Seidl, Daniela Prayer, Muhammad Imran Khan, Johannes A. Mayr, Berthold Streubel, Jens-Oliver Steiß, Andreas Hahn, Dagmar Csaicsich, Christel Castro, Mirna Assoum, Thomas Müller, Dagmar Wieczorek, Grazia M.S. Mancini, Carolin E. Sadowski, Nicolas Lévy, André Mégarbané, Koumudi Godbole, Denny Schanze, Friedhelm Hildebrandt, Valérie Delague, Andreas Janecke, Martin Zenker

Získat plný text

Psychological Therapies for Adults with Intellectual Disabilities Autor Richard P. Hastings, Chris Hatton, William R. Lindsay, John L. Taylor

Získat plný text

Social skills and the involvement among parents and children with intellectual disabilities Autor Alcides Cardozo, Adriana Benevides Soares

Získat plný text

Febrile infection‐related epilepsy syndrome (FIRES) is not caused by <i>SCN1A, POLG, PCDH19</i> mutations or rare copy number variations Autor Silke Appenzeller, Ingo Helbig, Ulrich Stephani, Martin Häusler, Gerhard Kluger, May Bungeroth, Stefanie H. Müller, Gregor Kuhlenbäumer, Andreas van Baalen

Získat plný text Získat plný text

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes Autor Kacie N. Riley, Lisa M. Catalano, John Bernat, Stacie D. Adams, Donna M. Martin, Seema R. Lalani, Ankita Patel, Rachel D. Burnside, Jeffrey W. Innis, M. Katharine Rudd

Získat plný text

Plasma Amyloid-β as a Function of Age, Level of Intellectual Disability, and Presence of Dementia in Down Syndrome Autor Elizabeth Head, Eric Doran, Mihaela Nistor, MARYANN HILL, Frederick A. Schmitt, Richard J. Haier, Ira T. Lott

Získat plný text

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay Autor Hirotomo Saitsu, Ryoko Fukai, Bruria Ben‐Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saitō, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto

Získat plný text Získat plný text

The Effects of Listener Training on the Emergence of Tact and Mand Signs by Individuals with Intellectual Disabilities Autor Daniela Mendonça Ribeiro, Nassim Chamel Elias, Celso Goyos, Caio F. Miguel

Získat plný text

Genomic microarrays: a technology overview Autor Paul Brady, Joris Vermeesch

Získat plný text Získat plný text

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies Autor Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julián A. Martínez-Agosto, Natalia Gomez‐Ospina, Natalie M. Gallant, Jonathan A. Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka‐Kowalnik, Michelle Fox, Joshua L. Deignan, Éric Vilain, Emily Hendricks, Margaret Harr, Sarah E. Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H. Zackai, Ian D. Krantz, A. Micheil Innes, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

Získat plný text Získat plný text

Review: Antipsychotic medication for challenging behaviour in people with intellectual disability: a systematic review of randomized controlled trials Autor Jane Brylewski, Lorna Duggan

Získat plný text Získat plný text