Results 261 to 270 of about 239,035 (361)

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Why do we need national guidelines for adults with intellectual disability and dementia?

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2015
Matthew P. Janicki, Seth M. Keller
doaj   +1 more source

Digital Inequality and Internet Self-Efficacy in Adults With Intellectual Disability: Motivational, Demographic and Contextual Predictors of Online Participation. [PDF]

J Appl Res Intellect Disabil
Glencross S, Mason J.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

A Self-Guided Web-Based Transdiagnostic Mental Health Program for People With Intellectual Disability: Single-Arm Trial. [PDF]

JMIR Form Res
Baldwin P, Rasmussen V, Grey W, Trollor J, Zhao J, Anderson J, Rule C, Heck C, Gardner A, Christensen H, Boydell K.   +10 more
europepmc   +1 more source

What are the perceived benefits of workshops and day care centers on the social inclusion and quality of life of adults with intellectual disabilities?

Tripdatabase
openalex   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy Syndrome. [PDF]

Neurol Genet
Nagaraj V, Thomas QH, Nóbrega PR, Rodriguez Gil JL, Garavatti E, Scala M, Severino M, Efthymiou S, Amaral S, Ng TC, Inder T, Gao J, Matreyek KA, Castro MAA, Kok F, Sakata MT, Lima PLGSB, Pessoa ALS, Safraou H, Bernstein JA, Nichols CG, van Haaften G, Tran Mau-Them F, Smeland MF, McClenaghan C.   +24 more
europepmc   +1 more source

What impact does participation in workshops or day care centers have on the quality of life and well-being of adults with intellectual or cognitive disabilities?

Tripdatabase
openalex   +2 more sources

On the Prospects for African Philosophy in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source