Results 151 to 160 of about 220,119 (313)

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses   +21 more
wiley   +1 more source

Transition practice for primary immunodeficiency diseases in Southeast Asia: a regional survey. [PDF]

open access: yesFront Immunol, 2023
Chan CM   +19 more
europepmc   +1 more source

Cerebral Small Vessel Disease in Older Adults With Olfactory Dysfunction

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Poor vascular health has been associated with age‐related declines in sensory functions, including olfaction. The current study was designed to test the hypothesis that cerebral small vessel disease underlies poor olfactory function due to structural declines in brain regions that support olfaction.
Mark A. Eckert   +3 more
wiley   +1 more source

Comparative pathogenicity of vaccinia virus and mpox virus infections in CAST/EiJ mice: Exploring splenomegaly and transcriptomic profiles

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We successfully constructed CAST/EiJ mice models infected with low‐dose vaccinia virus (VACV‐L), high‐dose VACV (VACV‐H), and mpox virus (MPXV), demonstrating that VACV‐L and MPXV infections induced splenomegaly in mice, and VACV‐H infection caused mortality in mice.
Yongzhi Hou   +9 more
wiley   +1 more source

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