Zobrazeno 1 - 10
of 237
pro vyhledávání: '"Intellectual deficiency"'
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 17, Iss 2, Pp 28-35 (2023)
Introduction. Each fifth neurodevelopmental disorder is diagnosed in massively parallel sequencing only. Objective: to present the experience of exome sequencing in children with undifferentiated general developmental delay and intellectual disabi
Externí odkaz:
https://doaj.org/article/b9ec1d862e614f398bc601eb8557f7c5
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Christophe GAULD, Alice POISSON, Julie REVERSAT, Elodie PEYROUX, Françoise HOUDAYER-ROBERT, Massimiliano ROSSI, Gaetan LESCA, Damien SANLAVILLE, Caroline DEMILY
Publikováno v:
BMC Psychiatry, Vol 21, Iss 1, Pp 1-11 (2021)
Abstract Background Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature. This phenot
Externí odkaz:
https://doaj.org/article/e46caa96fbbc4e0ab58e7ad30e9a30ff
Publikováno v:
Русский журнал детской неврологии, Vol 14, Iss 1, Pp 49-53 (2019)
Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech development, ataxia and hypoplasia of the iris. The cause of disease – homozygous, compound he
Externí odkaz:
https://doaj.org/article/5b3415033f114fb6abaf26405d530235
Autor:
I. V. Sharkova, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 1, Pp 34-37 (2018)
Clinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown t
Externí odkaz:
https://doaj.org/article/38bb959f5b86409da669bcb3214a7316
Autor:
Luiza L. P. Ramos, Fabiola P. Monteiro, Leticia P. B. Sampaio, Larissa A. Costa, Mara D. O. Ribeiro, Erika L. Freitas, Joao P. Kitajima, Fernando Kok
Publikováno v:
Clinical Case Reports, Vol 7, Iss 8, Pp 1582-1584 (2019)
Abstract Recognition of a de novo mutation in NR4A2 associated with a neurodevelopmental phenotype reinforces its role in 2q23q24 microdeletion syndrome. Using the proband WES data and the probability of loss‐of‐function intolerance index (pLi) s
Externí odkaz:
https://doaj.org/article/6a737f0e5ef24ab781cbc5c3b6ffb799
Studies on the problems of social and educational inclusion of persons with intellectual impairments
Autor:
Yudina T.A., Alekhina S.V.
Publikováno v:
Современная зарубежная психология, Vol 4, Iss 2, Pp 40-46 (2015)
The article provides an overview of modern foreign researches on social and educational inclusion of persons with intellectual disabilities and highlights the main direction of these studies. Foreign researches are aimed at investigation of social sk
Externí odkaz:
https://doaj.org/article/4ba411addebf4157a55848b20f122e9d
Autor:
Cécile Mazon, Charles Fage, Charles Consel, Anouck Amestoy, Isabelle Hesling, Manuel Bouvard, Kattalin Etchegoyhen, Hélène Sauzéon
Publikováno v:
Brain Sciences, Vol 9, Iss 12, p 334 (2019)
The school inclusion of students with autism is still a challenge. To address the cognitive underpinnings of school-related adaptive behaviors, 27 students with autism and 18 students with intellectual and/or severe learning disability, aged from 11
Externí odkaz:
https://doaj.org/article/0904464e0ff9477aaabfbabb87a7ec9f
Publikováno v:
Revista Gestão & Saúde, Vol 4, Iss especial, Pp 600-611 (2013)
Children who have intellectual disability plenty of times are deprived from the same opportunities of those who don`t. Concerning sports, these opportunities are still just a few, and in many cases, scarce. In order to make the children learn a sport
Externí odkaz:
https://doaj.org/article/eee15f5db46744b0ac985f179b7fdac5
Autor:
Annie Gomes Redig
Publikováno v:
Revista Educação Especial, Vol 23, Iss 38, Pp 369-378 (2010)
This paper has the objective to analyse and reflect on the performance of the itinerant teacher who works with students with intellectual disabilities at Education of young and adults. The present research used qualitative methodology with a semi-str
Externí odkaz:
https://doaj.org/article/3f84cd6eee4a4dbd8fda5b84e962665f