Characterising the asynchronous resurgence of common respiratory viruses following the COVID-19 pandemic. [PDF]
Zhao C+25 more
europepmc +1 more source
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri+3 more
wiley +1 more source
Changes in respiratory viruses in infancy during the SARS-CoV-2 pandemic: a prospective cohort study. [PDF]
Steinberg R+10 more
europepmc +1 more source
The use of cough/nasal swabs in the rapid diagnosis of respiratory syncytial virus infection by the fluorescent antibody technique [PDF]
J. McQuillin+2 more
openalex +1 more source
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel+2 more
wiley +1 more source
Exploring the Preventive Potential of Solubilized Sturgeon Oil on Acute Infection with Respiratory Viruses. [PDF]
Park SO+9 more
europepmc +1 more source
Introduction of a cross-infection rate in children's wards and its application to respiratory virus infections [PDF]
D. R. Weightman+2 more
openalex +1 more source
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone+11 more
wiley +1 more source