Results 281 to 290 of about 239,035 (361)
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
The experience of nurses caring for children with intellectual disability. [PDF]
Alghamdi S +4 more
europepmc +1 more source
A new Patient‐Reported Outcome Scale to assess autoimmune Encephalitis: PROSE
Objective Autoimmune encephalitis (AIE) has long‐lasting effects. Generic clinical assessment‐scales insufficiently capture disease‐specific sequelae. Patient‐reported outcome measures (PROMs) assess outcomes important to patients, ensuring relevance in the clinic and trials.
Juliette Brenner +24 more
wiley +1 more source
Reducing aggressive behavior in forensic inpatients with virtual reality aggression prevention training-intellectual disability: a pilot study. [PDF]
van Reekum P +7 more
europepmc +1 more source
The mechanism of labor in nonhuman primates: A look inside
Abstract While in humans, the flexed position of the fetus and its rotating course down the birth canal are well documented, in other primates the mechanism of labor is unknown. Despite the lack of comparative data, it is commonly assumed that the human obstetric mechanism is unique, and anthropologists have disputed when and why the transition to the ...
Melissa K. Stoller
wiley +1 more source
Intellectual Disability Support: Traditional Healers' Views on Collaboration with Western-Trained Healthcare Practitioners. [PDF]
Witbooi SL, Os MA, Mkabile SG.
europepmc +1 more source
From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz +13 more
wiley +1 more source

