Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre
2007 · BMC Medical Genetics · 62 citations
https://doi.org/10.1186/1471-2350-8-9
H
Helen Thomas
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Helen Thomas is an academic researcher from The University of Melbourne. The author has contributed to research in topics: Pancreatic function and diabetes & Genomic variations and chromosomal abnormalities & Prenatal Screening and Diagnostics. The author has an h-index of 7, co-authored 21 publications.
Papers by this author
worksPhysiological measurements with varying Cx36 and Kir6.2<sup>[ΔN30,K185Q]</sup> expression.
2016 · Figshare · 0 citations
https://doi.org/10.1371/journal.pcbi.1005116.g002
Calcium imaging and modeling in islets with varying Cx36 and Kir6.2<sup>[ΔN30,K185Q]</sup> expression.
2016 · Figshare · 0 citations
https://doi.org/10.1371/journal.pcbi.1005116.g001
Simulated dependence of islet [Ca<sup>2+</sup>] on electrical coupling upon reduced K<sub>ATP</sub> ATP sensitivity.
2016 · Figshare · 0 citations
https://doi.org/10.1371/journal.pcbi.1005116.g003
Simulated decline in [Ca<sup>2+</sup>] due to Kir6.2 and SUR1 mutations, and recovery following decreased electrical coupling.
2016 · Figshare · 0 citations
https://doi.org/10.1371/journal.pcbi.1005116.g005
Simulated dependence of [Ca<sup>2+</sup>] on electrical coupling following modulation of other K<sub>ATP</sub> parameters.
2016 · Figshare · 0 citations
https://doi.org/10.1371/journal.pcbi.1005116.g004
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