Exploring the usability of simulated patient methodology in dental clinics in Western Australia: A pilot survey. [PDF]
Liyange V +5 more
europepmc +1 more source
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
[Construction of the evaluation index system for nursing quality management in outpatient dental clinics based on the structure-process-outcome model]. [PDF]
Wei J +7 more
europepmc +1 more source
Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif +3 more
wiley +1 more source
The Prevalence of Sjögren's Disease in Dental Clinics in the Netherlands Compared with the Prevalence in a Systematic Literature Review of Studies in Other Countries. [PDF]
Maarse F +3 more
europepmc +1 more source
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
Oral health-related quality of life in children attending university special needs and paediatric dental clinics in Trinidad and Tobago: A parental perspective. [PDF]
Balkaran R +3 more
europepmc +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source

