Results 81 to 90 of about 64,882,224 (297)
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
Fogyatékosság és TársadalomObjective: Employment is a major area of life for adults, including people with disabilities. The aim of our study is to understand the conditions and support opportunities that determine the career paths of people with hearing impairment in the labour ...
Bányai, Borbála +2 more
doaj +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
, 2017 Updated irregularly; Began in 2002?; Title from home page (publisher's Web site, viewed May 23, 2011).; At head of title: State of Connecticut.; Harvested from the web on 4/5/17Official website of the Connecticut Office of Protection and Advocacy for ...
core
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Disability resource directory for people with disabilities. [Last modified on] 2016: Jan. 14.
, 2006 Rev. Oct. 2006.; Cover title.; "Ver. JM.2.00"--Page 4 of cover.; Imprint from p. 4 of cover.; Previously issued as: Disability resources in Connecticut / compiled by the State Office of Protection and Advocacy for Persons with Disabilities. Hartford, CT :
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Nova Prisutnost, 2020 The aim of this paper is to explore the frequency of experiences of discrimination and violence among persons with various types of disabilities, investigate the correlation of these topics with particular sociodemographic characteristics and with the ...
Marko Marinić
doaj
[READ] ACSM's Exercise Management for Persons With Chronic Diseases and Disabilities Full PDF
, 2020 Read Or Download ACSM's Exercise Management for Persons With Chronic Diseases and Disabilities Full Books By by American College of Sports Medicine (Author), Geoffrey E. Moore (Editor), J. Larry Durstine (Editor), Patricia L.
[READ] ACSM's Exercise Management for Persons With Chronic Diseases and Disabilities Full PDF
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Психологическая наука и образование, 2017 The paper summarizes the many years of experience in methodological support and training at the Center of Professional Education for the Disabled and at the “Inclusive Education” Research and Educational Center of the Vladimir State University.
Yegorov I.N., , Panfilov A.N.,
doaj +1 more source