Results 251 to 260 of about 365,870 (389)

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

open access: yesJournal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld   +6 more
wiley   +1 more source

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

open access: yesHuman Molecular Genetics, 2012
J. Winkelmann   +16 more
semanticscholar   +1 more source

What do public contributors with lived experience know and think about open research? ‘Nobody should look at results and think “how did they arrive at that?”’

open access: yesJournal of Neuropsychology, EarlyView.
Abstract Involving people with lived experience in research (patient and public involvement or co‐production) is one principle of open research (transparent research practices). Involvement of experts by experience helps ensure that clinical and health research is relevant, ethical and accessible.
Ellen Poliakoff   +7 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

open access: yesJournal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah   +8 more
wiley   +1 more source

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