Results 271 to 280 of about 1,173,497 (381)
Effect of helium on cerebral blood flow: A n=1 trial in a healthy young person
Sanne M. Zinkstok +3 more
openalex +1 more source
Mapping human cerebral blood flow with high-density, multi-channel speckle contrast optical spectroscopy. [PDF]
Kim BK +13 more
europepmc +1 more source
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona +15 more
wiley +1 more source
Vasomotion delineates cerebral vascular dynamic features and participates in the homeostatic cerebral blood flow regulation. [PDF]
Zhang YY +5 more
europepmc +1 more source
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson +3 more
wiley +1 more source

