Results 281 to 290 of about 3,182,382 (382)
Predictive Value of Family History on Severity of Illness
Barry Milne+5 more
openalex +1 more source
Rapid Diagnostic Tests and Severity of Illness in Pandemic (H1N1) 2009, Taiwan
Tsui-Mai Kao, Un-In Wu, Yee-Chun Chen
doaj +1 more source
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
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
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
American Journal of Hematology, EarlyView.
Iliana Stamatiou+4 more
wiley +1 more source