Results 161 to 170 of about 37,634 (351)
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
Preoperative Assessment of the Oral Environment in Patients Undergoing Tonsillectomy. [PDF]
Yamano T +5 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
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Multilobulated frontal brain abscess caused by Gemella morbillorum and Kocuria rosea in an immunocompetent young adult: illustrative case. [PDF]
Aydın İ +5 more
europepmc +1 more source
Dental Rehabilitation of a Child Diagnosed With Alopecia Areata Totalis: A Case Report. [PDF]
Abou Samra N, Aboujaoude S.
europepmc +1 more source
Transcriptome sequencing identified secreted phosphoprotein 1 (SPP1) as a crucial target through which methylophiopogonanone A (MOA) ameliorates pulmonary fibrosis. Molecular docking and microscale thermophoresis (MST) assays confirmed a favorable binding affinity between MOA and SPP1.
Fan Yang +10 more
wiley +1 more source
Why was the concordance rate of imaging and clinical diagnosis in cemento-osseous dysplasia low? A retrospective study of 55 cases. [PDF]
Li Y +6 more
europepmc +1 more source

