Search Results - "intellectual disability"

A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects by Hao Huang, Hao Huang, Hao Huang, Jieyuan Jin, Jieyuan Jin, Liping Wu, Huifen Wu, Huichun Pi, Yi Dong, Yi Dong, Rong Xiang, Rong Xiang

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Cultural applicability and desirability of 'Broodles': The first serious game intervention for siblings of children with disabilities by Linda K.M. Veerman, Krister W. Fjermestad, Torun M. Vatne, Paula S. Sterkenburg, Suzanne D.M. Derks, Anjet A.J. Brouwer-van Dijken, Agnes M. Willemen

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Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings by Esra Işık, Bilcağ Akgün, Tahir Atik, Ferda Özkınay, Özgür Çoğulu

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People with Multiple Long-Term Health Problems: Personalized Care Planning by Edgar Canais, Lucília Nunes

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Transient Ischemic Attack and Ischemic Stroke in Danon Disease with Formation of Left Ventricular Apical Thrombus despite Normal Systolic Function by Takeshi Tsuda, Amanda J. Shillingford, Jane Vetter, Vinay Kandula, Badal Jain, Joel Temple

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A rare case of mosaic ring turner syndrome with horseshoe kidney by Kumari Pritti, Vineet Mishra, Hetvi Patel

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The Specialized school in time of inclusion by Roseli Albino dos Santos, Suelene Regina Donola Mendonça, Mercia Cunha Oliveira

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Hereditary kidney diseases associated with hypomagnesemia by Felix Claverie-Martin, Ana Perdomo-Ramirez, Victor Garcia-Nieto

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Wiedemann-Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan by Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

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Relationship (Correlation) between BruininksOseretsky Test of Motor Proficiency and Peabody Developmental Motor Scale on Children with Educable-Intellectual and Developmental Disab... by Kobra Soltanikhadiv, Mohamad Kamali, Shahla Rafiei, Ghorban Taghizade

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Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report by Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Carlo Fusco

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Misunderstandings about developmental dyslexia: a historical overview by Pietro Smirni, Luigi Vetri, Eliana Misuraca, Marco Cappadonna, Francesca Felicia Operto, Grazia Maria Giovanna Pastorino, Rosa Marotta

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Development of an mRNA replacement therapy for phenylketonuria by Carlos G. Perez-Garcia, Ramon Diaz-Trelles, Jerel Boyd Vega, Yanjie Bao, Marciano Sablad, Patty Limphong, Simon Chikamatsu, Hailong Yu, Wendy Taylor, Priya P. Karmali, Kiyoshi Tachikawa, Padmanabh Chivukula

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Access to Care for US Children with Co-Occurrence of Autism Spectrum Disorder and Epilepsy by Wanqing Zhang, Kelsey L. Thompson

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Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies by Guillermo Lay‐Son, Karena Espinoza, Cecilia Vial, Juan C. Rivera, María L. Guzmán, Gabriela M. Repetto

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Mosaic expression of Atrx in the mouse central nervous system causes memory deficits by Renee J. Tamming, Jennifer R. Siu, Yan Jiang, Marco A. M. Prado, Frank Beier, Nathalie G. Bérubé

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DOWN SYNDROME - LONGITUDINAL STUDY OF CLINICAL EVOLUTION AND PSYCHO-SOCIAL IMPLICATIONS by Codruța Diana Petchesi, Gabriela Ciavoi, Florentina Feier, Oana Alexandra Iuhas, Kinga Kozma, Claudia Jurca, Marius Bembea

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A rare presentation of Rubinstein-Taybi syndrome by Spandana M, Sneh Kumar, Chitturi Venkata Sai Akhil, Sham Lohiya, Shubhangi Patil Ganvir

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Long prodromal symptoms of neuroleptic malignant syndrome in patient with intellectual developmental disorder-A case report by Seyedehnasibeh Sadati, Forouzan Elyasi, Zahra Shyasi, Behzad Rouhanizadeh

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A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report by Seung Hoon Lee, Seung Han Shin, Jung Min Ko, Boram Kim, Hyeon Sae Oh, Man Jin Kim, Seul Gi Park, Ee-Kyung Kim, Han-Suk Kim

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