Results 251 to 260 of about 239,035 (361)

Co-Producing a Patient Reported Experience Measure (PREM) With and for People With Intellectual Disability. [PDF]

Health Expect
Newman B, Wu L, Mimmo L, Catlett B, Van Hoeke M, Tokutake M, Phillips K, Van Hoeke D, Bowen K, Baumgarter DD, Patterson P, Manias E, Szanto T, Hackl NA, Basur D, Li M, Adams C, Olivier P, Strnadová I, Trollor JN, Harrison R.   +20 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Examining the Predictors of Life Satisfaction in College Students With Intellectual Disability. [PDF]

J Intellect Disabil Res
Van Gaasbeek EK, Tassé MJ.
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Psychological growth in parents of children with genetic neurodevelopmental conditions : preliminary results [PDF]

, 2014
Strutt, Paul (R21076), Goodwin, Jane, Dudding-Byth, Tracey, Campbell, Linda   +3 more
core  

EEG hyperscanning in intellectual disability: a scoping review with implications for cognitive stimulation therapy. [PDF]

Front Neuroergon
Pavithra P, Bradshaw Bernacchi JK, Ahmed S, McDermott G, McCarron M, McCallion P, McGlinchey E, Lopez Valdes A.   +7 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

"It was up to me to be curious": perceptions and experiences of students with intellectual disability on genetics and health education. [PDF]

Eur J Hum Genet
Hansen J, Strnadová I, Danker J, Jackaman KM, Loblinzk Refalo Oam J, Sarfaraz S, Leach Scully J, Boyle J, Terrill B, Palmer EE.   +9 more
europepmc   +1 more source

What is the best way to assess a non-English speaker from an ethnic minority for intellectual disability?

Tripdatabase
openalex   +2 more sources