Home
Catalogue search
Refine your search:
Keyword:
Speech disorder (44)
Speech impairment (44)
Language Handicaps (43)
Speech Handicaps (43)
Speech disability (43)
Speech handicap (43)
Sprachbehinderung (40)
Education (34)
Erziehung (24)
Schul- und Bildungswesen (24)
more
Creator / Publisher:
Faculty of Health Sciences (11)
Worrall, Linda (6)
Hickson, Louise (4)
Reber, Karin (4)
Sallat, Stephan (4)
Spreer, Markus (4)
Baker, Elise (3)
Howe, Tami (3)
Scarinci, Nerina (3)
Williams, A. Lynn (3)
more
Year:
2022 (1)
2021 (7)
2020 (10)
2019 (17)
2018 (16)
2017 (6)
2016 (16)
2015 (8)
2014 (33)
2013 (14)
more
Medium:
Online (196)
Type
BLLDB-Access:
free (196)
subject to license (0)
Search in the Catalogues and Directories
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
...
10
Hits 1 – 20 of 196
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
...
10
Mobile view
All
Catalogues
UB Frankfurt Linguistik
0
IDS Mannheim
0
OLC Linguistik
0
UB Frankfurt Retrokatalog
0
DNB Subject Category Language
0
Institut für Empirische Sprachwissenschaft
0
Leibniz-Centre General Linguistics (ZAS)
0
Bibliographies
BLLDB
2
BDSL
0
IDS Bibliografie zur deutschen Grammatik
0
IDS Bibliografie zur Gesprächsforschung
0
IDS Konnektoren im Deutschen
0
IDS Präpositionen im Deutschen
0
IDS OBELEX meta
0
MPI-SHH Linguistics Collection
0
MPI for Psycholinguistics
0
Linked Open Data catalogues
Annohub
0
Online resources
Link directory
0
Journal directory
0
Database directory
0
Dictionary directory
0
Open access documents
BASE
194
Linguistik-Repository
0
IDS Publikationsserver
0
Online dissertations
0
Language Description Heritage
0
© 2013 - 2024 Lin|gu|is|tik
|
Imprint
|
Privacy Policy
|
Datenschutzeinstellungen ändern