Results 181 to 190 of about 52,500 (323)
Clinical Genetics, EarlyView.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source
A New Operation for Correction of the Nasal Septum [PDF]
, 1907 Rockwell A. Coffin
openalex +1 more source
Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease
Clinical Genetics, EarlyView.We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad +20 more
wiley +1 more source
Clinical Otolaryngology, EarlyView.ABSTRACT Background Approximately 6%–8% of children diagnosed with acute rhinosinusitis (ARS) would experience complications, primarily periorbital or orbital complications (OC). Both conservative and surgical management have been shown to be successful, and the choice of proper management depends on the presentation and the surgeon's discretion.
Elchanan Zloczower +9 more
wiley +1 more source
Suppuration of the Maxillary Sinuses Consecutive to Deplection of the Nasal Septum [PDF]
, 1896 NULL AUTHOR_ID
openalex +1 more source
Cell Proliferation, EarlyView.During hypoxia, the transcriptional effect of super‐enhancer in promoting CBP/p300‐interacting transactivator with Glu/Asp‐rich C‐terminal domain, 2 reduced, eventually leading to the thickening of the smooth muscle layer of the pulmonary artery.
Songyue Li +11 more
wiley +1 more source
Solitary fibrofolliculoma on the nasal septum: a case report. [PDF]
Arch Craniofac Surg, 2023 Chi YH, Woo JY, Koh TK, Koo SK, Son H.
europepmc +1 more source
Journal of Advanced Nursing, EarlyView.ABSTRACT Aim To test the reliability and construct validity of the Mask Usability Scale in healthcare students and staff. Design A methodological study involving repeated measures. Methods The study included two batches of participants: (1) 283 university nursing students and (2) 1753 participants composed of students (61%) and clinical staff (39 ...
Lorna Kwai Ping Suen +9 more
wiley +1 more source