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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 3 4 5...18 Hits 1 – 20 of 349 1 AAC Services for Emergent Bilinguals: Perspectives, Practices, and Confidence of Speech-Language Pathologists Ward, Hannah In: All Graduate Plan B and other Reports (2022) BASE Show details 2 Skraban-Deardorff syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype Cospain, Auriane; Schaefer, Elise; Faoucher, Marie; Dubourg, Christèle; Carré, Wilfrid; Bizaoui, Varoona; Assoumani, Jessica; Van Maldergem, Lionel; Piton, Amélie; Gérard, Bénédicte; Mau-Them, Frédéric Tran; Bruel, Ange-Line; Faivre, Laurence; Demurger, Florence; Pasquier, Laurent; Odent, Sylvie; Fradin, Mélanie; Lavillaureix, Alinoe In: ISSN: 0009-9163 ; EISSN: 1399-0004 ; Clinical Genetics ; https://hal.archives-ouvertes.fr/hal-03134882 ; Clinical Genetics, Wiley, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩ (2021) Abstract: International audience ; Skraban-Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphic features. Here, we report on six novel heterozygous de novo pathogenic variants in WDR26 in six probands. The patients’ phenotypes were consistent with original publication. One patient displayed marked hypotonia with an abnormal muscle biopsy; this finding warrants further investigation. Gait must be closely monitored, in order to highlight any musculoskeletal or neurological abnormalities and prompt further examinations. Speech therapy and alternative communication methods should be initiated early in the clinical follow-up, in order to improve language and oral eating and drinking. Keyword: [SDV.GEN]Life Sciences [q-bio]/Genetics; [SDV]Life Sciences [q-bio]; hypotonia; intellectual disability; language development disorders; phenotype; Skraban-Deardorff syndrome; speech therapy; WDR26 URL: https://doi.org/10.1111/cge.13933 https://hal.archives-ouvertes.fr/hal-03134882 https://hal.archives-ouvertes.fr/hal-03134882/document https://hal.archives-ouvertes.fr/hal-03134882/file/Cospain%20et%20al-Skraban-Deardorff%20syndrome.pdf BASE Hide details 3 The educational needs of school-aged students with Developmental Language Disorder: The perspectives of key stakeholders ... Ziegenfusz, Shaun. - : Open Science Framework, 2021 BASE Show details 4 Разработка и апробация скрининга речевого развития старших дошкольников ... : Development and Testing of Speech Progress Screening for Older Preschoolers ... Русецкая Маргарита Николаевна; Величенкова Ольга Александровна; Ушакова Елена Викторовна. - : Современное дошкольное образование. Теория и практика, 2021 BASE Show details 5 Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants Scala, Marcello; Anijs, Midas; Battini, Roberta. - 2021 BASE Show details 6 Logopedia y derecho a la comunicación ; Speech and Language Pathology and Communication ́s rights Teira Serrano, Celia. - : Universidad de Castilla-La Mancha: Colegio Oficial de Logopedas de Castilla-La Mancha, 2021. : Universidad Complutense de Madrid: Facultad de Psicología, 2021 BASE Show details 7 Faciliter les échanges avec les personnes vivant avec un trouble de la communication : une formation pour les chauffeur·e·s de transport adapté Tessier, Alexandra. - 2021 BASE Show details 8 Environmental factors and their associations with speech-language-hearing diagnostic hypotheses in children and adolescents Marina Garcia de Souza Borges; Adriane Mesquita de Medeiros; Stela Maris Aguiar Lemos In: Revista CEFAC, Vol 23, Iss 5 (2021) (2021) BASE Show details 9 Reading Robot Watts, Gillian; Myers, Andrew; Tan, Sabrinna... In: General Engineering (2020) BASE Show details 10 Vignetteninterview zur Erfassung des Sprachförderwissens pädagogischer Fachkräfte (VSW) Löffler, Cordula; Koch, Katja; Beckerle, Christine... In: Mackowiak, Katja [Hrsg.]; Beckerle, Christine [Hrsg.]; Gentrup, Sarah [Hrsg.]; Titz, Cora [Hrsg.]: Forschungsinstrumente im Kontext institutioneller (schrift-)sprachlicher Bildung. Bad Heilbrunn : Verlag Julius Klinkhardt 2020, S. 13-32 (2020) BASE Show details 11 Working Memory Processing Times in Children with Fetal Alcohol Spectrum Disorders Cleveland, Elizabeth. - : University of Arkansas for Medical Sciences, 2020 BASE Show details 12 We Need to Talk: A Study Measuring the Impact of an Innovative AAC Intervention on Conversation Management Skills in Young Adults with Autism Spectrum Disorders Leeder, Amanda A.. - : Fordham University, 2020 BASE Show details 13 We Need to Talk: A Study Measuring the Impact of an Innovative AAC Intervention on Conversation Management Skills in Young Adults with Autism Spectrum Disorders Leeder, Amanda A In: ETD Collection for Fordham University (2020) BASE Show details 14 Perceptions of Guilt of Individuals with a Visible Communication Disorder versus an Invisible Communication Disorder Hochberg, Zoe In: Honors Scholar Theses (2020) BASE Show details 15 Analysis of phone-errors in reading disabled children Wang, Yuechen. - 2020 BASE Show details 16 EXPERIENCES OF ADOLESCENTS IN THE GENERAL EDUCATION SETTING INTERACTING WITH PEERS WITH INTELLECTUAL DISABILITY Goldey, Katie In: Theses and Dissertations--Rehabilitation Sciences (2020) BASE Show details 17 School-Based Speech-Language Pathologist Collaborative Practice: A Literature Review Elenko, Kaija R In: Undergraduate Theses, Professional Papers, and Capstone Artifacts (2020) BASE Show details 18 Examining the Use of a Gamified Transcription Task to Support Perceptual Learning of Dysarthric Speech Budge, Samantha In: All Graduate Plan B and other Reports (2020) BASE Show details 19 Untitled (Speech Poem #2) Sedgwick, Marrok In: Refract: An Open Access Visual Studies Journal, vol 2, iss 1 (2019) BASE Show details 20 Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Fountain, Michael D; Oleson, David S; Rech, Megan E... In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019) BASE Show details Page: 1 2 3 4 5...18

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