Results 151 to 160 of about 1,423,846 (344)

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti   +14 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle   +26 more
wiley   +1 more source

Substance use interventions for people with intellectual disability transitioning out of prison

open access: yesAustralian and New Zealand Journal of Public Health, 2015
Kate van Dooren   +3 more
doaj   +1 more source

The experience of nurses caring for children with intellectual disability. [PDF]

open access: yesFront Psychiatry
Alghamdi S   +4 more
europepmc   +1 more source

Intellectual and developmental disability and COVID-19 case-fatality trends: TriNetX analysis

open access: yesDisability and Health Journal, 2020
M. Turk   +3 more
semanticscholar   +1 more source

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