Search Results - "intellectual disability"

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  1. 1141
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    Danon disease for the cardiologist: case report and review of the literature by Ryan S. D'souza, Luisa Mestroni, Matthew R. G. Taylor

    Published 2017
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  2. 1142
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    Novel preclinical model for CDKL5 deficiency disorder by Rita J. Serrano, Clara Lee, Alon M. Douek, Jan Kaslin, Robert J. Bryson-Richardson, Tamar E. Sztal

    Published 2022
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  3. 1143
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    Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report by Harsh Sheth, Sunil Trivedi, Thomas Liehr, Ketan Patel, Deepika Jain, Jayesh Sheth, Frenny Sheth

    Published 2020
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  4. 1144
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    State of the art in educational journals on studies of families of children with special educational needs in the period from 2002 to 2011 by Giovana Mendes Ferroni, Fabiana Cia

    Published 2014
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  5. 1145
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    Leveraging Experiential Learning to Foster University Students' Proficiency in Engaging with People with Disabilities by Xazmín Folgueras, Marcelo Viera-Abelleira, Carlos Pérez-Campos, Rómulo J. González-García

    Published 2023
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  6. 1146
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    Psychiatric and Developmental Effects of Isotretinoin (Retinoid) Treatment for Acne Vulgaris by Alessandra Suuberg, JD

    Published 2019
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  7. 1147
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    Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies by Ekaterina Tolmacheva, Anna S. Bolshakova, Jekaterina Shubina, Margarita S. Rogacheva, Alexey N. Ekimov, Julia L. Podurovskaya, Artem A. Burov, Denis V. Rebrikov, Vladimir G. Bychenko, Dmitry Yu. Trofimov, Gennady T. Sukhikh

    Published 2024
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  8. 1148
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    Determinants of dental care use in patients with rare diseases: a qualitative exploration by Lisa Friedlander, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon

    Published 2023
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  9. 1149
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    Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review by Guo-qing Zhu, Ping Dong, Dong-yun Li, Chun-chun Hu, Hui-ping Li, Ping Lu, Xue-xia Pan, Lin-lin He, Xiu Xu, Qiong Xu

    Published 2023
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  10. 1150
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    Proteomics Study of Peripheral Blood Mononuclear Cells in Down Syndrome Children by Chiara Lanzillotta, Viviana Greco, Diletta Valentini, Alberto Villani, Valentina Folgiero, Matteo Caforio, Franco Locatelli, Sara Pagnotta, Eugenio Barone, Andrea Urbani, Fabio Di Domenico, Marzia Perluigi

    Published 2020
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  11. 1151
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    Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening by Kenji Yamada, Kazunori Yokoyama, Kikumaro Aoki, Takeshi Taketani, Seiji Yamaguchi

    Published 2020
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  12. 1152
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    Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study by Vega-Hanna Lourdes, Sanz-Cuesta Mario, Casas-Alba Didac, Casas-Alba Didac, Bolasell Mercè, Martorell Loreto, Pías Leticia, Pías Leticia, Feller Ana Lucia, Antonio Federico Martínez-Monseny, Serrano Mercedes, Serrano Mercedes

    Published 2023
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  13. 1153
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    Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy by Yung Chen Chien, Jia Shing Chen, Yu Ming Shiao, Ching Hua Hsiao

    Published 2022
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  14. 1154
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    Hypotonic hyponatremia by primary polydipsia caused brain death in a 10-year-old boy by A Ra Ko, Soo Jung Kim, Mo Kyung Jung, Ki Eun Kim, Hyun Wook Chae, Duk Hee Kim, Ho-Seong Kim, Ah Reum Kwon

    Published 2015
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  15. 1155
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    Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening by Tania Vasquez-Loarte, John D. Thompson, J. Lawrence Merritt

    Published 2020
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  16. 1156
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    Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms by Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang, Yan Zhong

    Published 2019
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  17. 1157
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    What Else Is Needed in the Korean Government's Master Plan for People With Developmental Disabilities? by Jin Yong Lee, Jieun Yun

    Published 2019
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  18. 1158
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    First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia by Altantuya Tsevgee, Khishigjargal Batjargal, Tsolmon Munkhchuluun, Naranchimeg Khurelbaatar, Gerelmaa Nansal, Oyun-Erdene Bulgan, Sumberzul Nyamjav, Gerelmaa Zagd, Erdenetuya Ganbaatar

    Published 2021
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  19. 1159
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    Case report: A gain-of-function of hamartin may lead to a distinct "inverse TSC1-hamartin" phenotype characterized by reduced cell growth by Andrea D. Praticò, Raffaele Falsaperla, Mattia Comella, Giuseppe Belfiore, Agata Polizzi, Martino Ruggieri

    Published 2023
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  20. 1160
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    The role of general practitioners in Reunion in detecting alcohol use in pregnant women and identifying fetal alcohol spectrum disorder: a qualitative study by Sébastien Leruste, Louise Delfarguiel, Bérénice Doray, Coralie Loubaresse, Laetitia Sennsfelder, Thierry Maillard, Catherine Marimoutou, Michel Spodenkiewicz

    Published 2023
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