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

open access: hybrid, 2012
Sanne M. Zinkstok   +3 more
openalex   +1 more source

Mapping human cerebral blood flow with high-density, multi-channel speckle contrast optical spectroscopy. [PDF]

open access: yesCommun Biol
Kim BK   +13 more
europepmc   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

Cerebral Blood Flow And Anaesthesia

open access: yesIndian Journal of Anaesthesia, 2002
L D Mishra
doaj  

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

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