Results 161 to 170 of about 2,095,967 (306)

Foetal Abnormalities

open access: yesInternational Journal of Clinical Practice, 1951
openaire   +2 more sources

Associations between respiratory signs and abnormalities reported in thoracic CT scans of cats [PDF]

open access: yes, 2016
Aarsvold   +28 more
core   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina   +11 more
wiley   +1 more source

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee   +7 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz   +3 more
wiley   +1 more source

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]

open access: yes, 2001
Anderson, RH   +6 more
core   +1 more source

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