Results 281 to 290 of about 3,182,382 (382)

Predictive Value of Family History on Severity of Illness

open access: green, 2009
Barry Milne   +5 more
openalex   +1 more source

Rapid Diagnostic Tests and Severity of Illness in Pandemic (H1N1) 2009, Taiwan

open access: yesEmerging Infectious Diseases, 2010
Tsui-Mai Kao, Un-In Wu, Yee-Chun Chen
doaj   +1 more source

Detection of Excess Influenza Severity: Associating Respiratory Hospitalization and Mortality Data With Reports of Influenza-Like Illness by Primary Care Physicians

open access: green, 2010
Cees C. van den Wijngaard   +7 more
openalex   +2 more sources

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

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson   +14 more
wiley   +1 more source

Pseudothrombocytopenia due to Phagocytosis of Platelets by Polymorphonuclear Leukocytes

open access: yes
American Journal of Hematology, EarlyView.
Iliana Stamatiou   +4 more
wiley   +1 more source

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