Results 221 to 230 of about 132,412 (405)

Attitudes toward the Income Gap: Japan-U.S. Comparison [PDF]

open access: yes
Employing the Japan-U.S. international survey, this study analyzed the cause of rising perception of the widening income gap in Japan. Between these two countries, their distinct value judgments on the substance of gap influence their recognition ...
Fumio Ohtake, Shinji Takenaka
core  

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

open access: yes
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C.   +4 more
core  

D-Glyceric Acidemia: An Inborn Error Associated with Fructose Metabolism [PDF]

open access: bronze, 1987
M. Durán   +4 more
openalex   +1 more source

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu   +10 more
wiley   +1 more source

Association of maternal autoimmune disease and early childhood infections with offspring autism spectrum disorder: A population‐based cohort study

open access: yesAutism Research, Volume 15, Issue 12, Page 2371-2380, December 2022., 2022
Abstract The aim of this study was to examine potential synergistic effects between maternal autoimmune disease and early childhood infections and their association with autism spectrum disorder (ASD) in offspring. Both exposures have been associated with increased risk of ASD in previous studies, but potential synergistic effects remain underexplored.
Timothy C. Nielsen   +8 more
wiley   +1 more source

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown   +6 more
wiley   +1 more source

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