Results 241 to 250 of about 239,035 (361)

Structural characterization of the human CC2D1A fragment associated with non-syndromic intellectual disability (NSID). [PDF]

Biosci Rep
Yeh YH, Lin MG, Sun XH, Shen YY, Ling P, Hsiao CD.   +5 more
europepmc   +1 more source

Lived Experiences of Mothers of Children with Intellectual Disabilities: A Phenomenological Study

, 2019
Lata Shelke, Sheetal Barde
openalex   +1 more source

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

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability. [PDF]

Mol Genet Genomic Med
Akkus N, Canbal A, Guneysu S, Gokce E, Duzgun P, Barıs İ.   +5 more
europepmc   +1 more source

Psychological support of persons with disabilities of intellectual development: adaptation to professional activities

, 2019
Olha Vovchenko
openalex   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

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, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Abdominal Massage for Adults With an Intellectual Disability and Constipation: A Feasibility Pilot Study. [PDF]

J Appl Res Intellect Disabil
Finlayson J, Goodman K, Crockett J, Sharma S, Kelly J, Sellers C, Hagen S.   +6 more
europepmc   +1 more source

Teaching Internet Safety Skills to Adults with Intellectual Disability

, 2013
Rachel Byrnes
openalex   +1 more source

國中小啟智班教師知覺專業知能的具備程度及需求情形之研究 A Study on the Levels and Needs of Perceived Professional Competency of Junior High School and Elementary School Teachers of Students with Intellectual Disability

, 2014
陳蓉潔 Jung-Chieh Chen, 孫淑柔 Shu-Jou Sun   +1 more
openalex   +2 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source