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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... 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) BASE Show 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; Madia, Francesca; Capra, Valeria; Scudieri, Paolo; Verrotti, Alberto; Zara, Federico; Minetti, Carlo; Vernes, Sonja C.; Striano, Pasquale. - 2021 Abstract: SCV was supported by a Max Planck Research Group awarded by the Max Planck Gesellschaft, a Human Frontiers Science Program Grant (RGP0058/2016), and a UKRI Future Leaders Fellowship (MR/T021985/1). MA was supported by an International Max Planck Research School (IMPRS) PhD Fellowship from the Max Planck Institute for Psycholinguistics. ; Background: Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. However, heterozygous variants can also be found in unaffected individuals. Biallelic CNTNAP2 variants are rarer and cause a well-defined genetic syndrome known as CASPR2 deficiency disorder, a condition characterised by ID, early-onset refractory epilepsy, language impairment, and autistic features. Case-report : A 7-year-old boy presented with hyperkinetic stereotyped movements that started during early infancy and persisted over childhood. Abnormal movements consisted of rhythmic and repetitive shaking of the four limbs, with evident stereotypic features. Additional clinical features included ID, attention deficit-hyperactivity disorder (ADHD), ASD, and speech impairment, consistent with CASPR2 deficiency disorder. Whole-genome array comparative genomic hybridization detected a maternally inherited 0.402 Mb duplication, which involved intron 1, exon 2, and intron 2 of CNTNAP2 (c.97 +?_209-?dup). The affected region in intron 1 contains a binding site for the transcription factor FOXP2, potentially leading to abnormal CNTNAP2 expression regulation. Sanger sequencing of the coding region of CNTNAP2 also identified a paternally-inherited missense variant c.2752C > T, p.(Leu918Phe). Conclusion : This case expands the molecular and phenotypic spectrum of CASPR2 deficiency disorder, suggesting that Hyperkinetic stereotyped movements may be a rare, yet significant, clinical feature of this complex neurological disorder. Furthermore, the identification of an in-frame, largely non-coding duplication in CNTNAP2 points to a sophisticated underlying molecular mechanism, likely involving impaired FOXP2 binding. ; Publisher PDF ; Peer reviewed Keyword: Autism; CASPR2; DAS; Hyperkinesia; Hyperkinetic movemment disorder; Intellectual disability; Intragenic duplication; QH301; QH301 Biology; QH426; QH426 Genetics; RC0321; RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry; Speech impairment URL: https://doi.org/10.1186/s13052-021-01162-w http://hdl.handle.net/10023/24135 BASE Hide 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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