Results 251 to 260 of about 22,642,428 (383)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

open access: yesClinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot   +13 more
wiley   +1 more source

Virulence profile of pathogenic yeasts from snakes: Alternative ways for antifungal strategies. [PDF]

open access: yesPLoS One
Ugochukwu ICI   +6 more
europepmc   +1 more source

Deficiency of Aging‐Related Gene Chitinase‐Like 4 Impairs Olfactory Epithelium Homeostasis

open access: yesCell Proliferation, EarlyView.
Deficiency of Chil4 impairs OE homeostasis through loss of sustentacular cells and a specific type of immature sensory neuron, cell cycle arrest in globose basal cells, and inflammatory activation in microglia‐like cells. ABSTRACT Mammalian olfactory epithelium (OE) undergoes consistent self‐renewal throughout life.
Tingting Wu   +7 more
wiley   +1 more source

Phospholipase B activity of a purified phospholipase A from Vipera palestinae venom

open access: hybrid, 1973
Joseph Shiloah   +3 more
openalex   +1 more source

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