about
Malignant hyperthermia: a reviewSequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermiaSequence diversity and functional conservation of the origin of replication in lactococcal prolate phages.Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant HyperthermiaFunctional analysis of RYR1 variants linked to malignant hyperthermia.Organisation and expression of a cluster of yolk protein genes in the Australian sheep blowfly, Lucilia cuprina.Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants.Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility.Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia.Efficient germ-line transformation of the economically important pest species Lucilia cuprina and Lucilia sericata (Diptera, Calliphoridae).Organization and expression of the Australian sheep blowfly (Lucilia cuprina) hsp23, hsp24, hsp70 and hsp83 genes.A genetic mystery in malignant hyperthermia 'solved'?
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description
researcher
@en
wetenschapper
@nl
name
Anja H Schiemann
@en
Anja H Schiemann
@nl
type
label
Anja H Schiemann
@en
Anja H Schiemann
@nl
prefLabel
Anja H Schiemann
@en
Anja H Schiemann
@nl
P106
P31
P496
0000-0003-4660-0979