Results 211 to 220 of about 239,035 (361)
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
An Australian Co-Designed Template for Accessible Medicines Information for People With Intellectual Disability. [PDF]
Bushell M +3 more
europepmc +1 more source
The Language of People with Mild Intellectual Disability – the research written tasks
Jacek J. Błeszyński
openalex +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism. [PDF]
Matheny-Rabun C +14 more
europepmc +1 more source

