Results 181 to 190 of about 298,029 (336)

Optimizing Sleep Disorder Management in Hospitalized Patients: Practical Approach for Healthcare Providers. [PDF]

open access: yesBrain Behav
Roostaei G   +7 more
europepmc   +1 more source

Sleep disorders in evaluation of fatigue

open access: bronze, 1993
James K. Walsh, William C. Dement
openalex   +1 more source

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli   +10 more
wiley   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis   +12 more
wiley   +1 more source

Alteration of esophageal pressure in sleep‐disordered breathing [PDF]

open access: bronze, 1998
Akira Mikami   +8 more
openalex   +1 more source

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku   +6 more
wiley   +1 more source

Measures of tonic and phasic activity of the locus coeruleus—norepinephrine system in children with autism spectrum disorder: An event‐related potential and pupillometry study

open access: yesAutism Research, Volume 15, Issue 12, Page 2250-2264, December 2022., 2022
Abstract A growing body of research suggests that locus coeruleus‐norepinephrine (LC‐NE) system may function differently in individuals with autism spectrum disorder (ASD). Understanding the dynamics of both tonic (resting pupil diameter) and phasic (pupil dilation response [PDR] and event‐related potential [ERP]) indices may provide meaningful ...
Yesol Kim   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy