Results 131 to 140 of about 185,257 (294)

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Comorbidities in People With Intellectual Disability With and Without Schizophrenia and Schizophrenia Without Intellectual Disability: A Swedish Register Study (IDcare). [PDF]

J Intellect Disabil Res
Bakken TL, Axmon A, Sandberg M.
europepmc   +1 more source

The study on the perception types of the service users with intellectual disability on the relationships with their service workers

, 2009
kimyongdeug, Lee bok sil, 강희설
openalex   +1 more source

INTEGRATING INTELLECTUAL DISABILITY & DEMENTIA INTO US NATIONAL PLAN TO ADDRESS ALZHEIMER’S DISEASE [PDF]

, 2016

openalex   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

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

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

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

Remotely Delivered Video Interaction Guidance for Families of Children With an Intellectual Disability Referred to Specialist Mental Health Services: Protocol for a Feasibility Randomized Controlled Trial (Preprint)

, 2023
Charmaine Kohn, Lauren Turner, Zhixing Yang, Michael Absoud, Angela Casbard, Manuel Gomes, Gemma Grant, Angela Hassiotis, Eilis Kennedy, Sophie Levitt, Rachel McNamara, Elizabeth Randell, Vasiliki Totsika   +12 more
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

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