Search Results - "intellectually disabled"

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  1. 1401
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    Zebrafish as a tool to study schizophrenia-associated copy number variants by Philip D. Campbell, Michael Granato

    Published 2020
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  2. 1402
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    Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder by Christina G. Tise MD, PhD, Melinda J. Palma MD, Kristina P. Cusmano-Ozog MD, Dena R. Matalon MD

    Published 2023
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  3. 1403
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    Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture's syndrome by whole exome sequencing by Shuolin Li, Jing Liu, Yuan Yuan, Aizhen Lu, Fang Liu, Li Sun, Quanli Shen, Libo Wang

    Published 2022
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  4. 1404
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    Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients by Jitao Zhu, Wenhui Li, Sha Yu, Wei Lu, Qiong Xu, Sujuan Wang, Yanyan Qian, Qiufang Guo, Suzhen Xu, Yao Wang, Ping Zhang, Xuemei Zhao, Qi Ni, Renchao Liu, Xu Li, Bingbing Wu, Shuizhen Zhou, Huijun Wang

    Published 2023
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  5. 1405
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    A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy by Li Wang, Jingmin Sun, Xiaoyan Xu, Longxiang Tao, De Wu, Ying Zhang

    Published 2020
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  6. 1406
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    The Effect of Problem-Focused Coping Strategy Training on Psychological Symptoms of Mothers of Children with Down Syndrome by Masoume Pourmohamadreza-Tajrishi, Parviz Azadfallah, Sahel Hemmati Garakani, Enayatollah Bakhshi

    Published 2015
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  7. 1407
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    Langerhans cell histiocytosis presenting as isolated hypothalamic involvement by L U Chirag, Shilpa Rao, Shabari Girishan, Manjunath Paidakula Ramakrishna

    Published 2023
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  8. 1408
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    Psychopathological Risk Assessment in Children with Hyperphenylalaninemia by Maria Cristina Risoleo, Margherita Siciliano, Luigi Vetri, Ilaria Bitetti, Anna Di Sessa, Marco Carotenuto, Francesca Annunziata, Daniela Concolino, Rosa Marotta

    Published 2022
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  9. 1409
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    Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene by Yan Liu, Wenchao Sheng, Wenchao Sheng, Wenchao Sheng, Jinying Wu, Jinying Wu, Jie Zheng, Jie Zheng, Xiufang Zhi, Xiufang Zhi, Xiufang Zhi, Shuyue Zhang, Shuyue Zhang, Shuyue Zhang, Chunyu Gu, Chunyu Gu, Chunyu Gu, Detong Guo, Detong Guo, Detong Guo, Wenhong Wang

    Published 2022
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  10. 1410
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    Neurobiology of cognitive abilities in early childhood autism by Kristina Denisova

    Published 2024
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  11. 1411
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    Progress toward therapeutic potential for AFQ056 in Fragile X syndrome by Sourial M, Cheng C, Doering LC

    Published 2013
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  12. 1412
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    Impaired Brain Mitochondrial Bioenergetics in the Ts65Dn Mouse Model of Down Syndrome Is Restored by Neonatal Treatment with the Polyphenol 7,8-Dihydroxyflavone by Daniela Valenti, Fiorenza Stagni, Marco Emili, Sandra Guidi, Renata Bartesaghi, Rosa Anna Vacca

    Published 2021
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  13. 1413
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    Comparison of intelligent development (IQ & EQ) of children with cleft lip and palate by Rasool Esmaeili Maryan, Masood Feizbakhsh, Zohreh Esmaeilian, Golnoosh Sedaghati

    Published 2024
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  14. 1414
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    A study on the effect of dual task on postural stability in children with high functional autistic disorder compared with typically developing children by Jandark Eghlidi, Amir Hossein Memari, Shahriar Gharibzadeh, Parisa Ghanoni

    Published 2012
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  15. 1415
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    Emotion dysregulation in ADHD and other neurodevelopmental conditions: a co-twin control study by Rebecka Astenvald, Matilda A. Frick, Janina Neufeld, Sven Bölte, Johan Isaksson

    Published 2022
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  16. 1416
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    Flexible parametric methods for calculating life expectancy in small populations by Freya Tyrer, Yogini V. Chudasama, Paul C. Lambert, Mark J. Rutherford

    Published 2023
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  17. 1417
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    Medical classification in sport of disabled people by Beniamin Szmelcer, Agata Trzebiatowska, Michał Wilczyński, Paulina Miętkowska, Małgorzata Gajos, Natalia Skierkowska, Monika Prylińska, Jakub Husejko, Oktawia Wysocka, Weronika Topka, Magdalena Łabędź, Kornelia Kędziora-Kornatowska

    Published 2018
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  18. 1418
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    Mutation in the <i>STXBP1</i> Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review by Kanako Takeda, Yusaku Miyamoto, Hisako Yamamoto, Toshiyuki Iwasaki, Noriko Sumitomo, Eri Takeshita, Atsushi Ishii, Shinichi Hirose, Naoki Shimizu

    Published 2022
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  19. 1419
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    Schizencephaly in children: A single medical center retrospective study by Po-Cheng Hung, Huei-Shyong Wang, Ming-Liang Chou, Kuang-Lin Lin, Meng-Ying Hsieh, I-Jun Chou, Alex M-C. Wong

    Published 2018
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  20. 1420
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    Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome by Zhuo Ren, Ling Yue, Hua-ying Hu, Xiao-lin Hou, Wen-qi Chen, Ya Tan, Zhe Dong, Jing Zhang

    Published 2024
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