Concepedia
5
Publications
253
Citations
H-Index
2017
Active since
Affiliations
University Medical Center Utrecht(Current)
University of Amsterdam
Washington University in St. Louis
Hubrecht Institute for Developmental Biology and Stem Cell Research
Utrecht University
Helen I. Roessler is an author at University Medical Center Utrecht specializing in classics, medicine, and literary history.
Top concepts
ClassicsLanguageMedicineLiterary HistoryLiterary Criticism
Publications per year
2017–2019
Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders
Federico Tessadori, Helen I. Roessler, Sanne M. C. Savelberg et al. · Disease Models & Mechanisms · 2018 · 91 citations · Full text
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry
Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2019 · 70 citations · Full text
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
Marie Falkenberg Smeland, Conor McClenaghan, Helen I. Roessler et al. · Nature Communications · 2019 · 40 citations · Full text
Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms
Conor McClenaghan, Alex Hanson, Monica Sala‐Rabanal et al. · Journal of Biological Chemistry · 2017 · 39 citations · Full text
Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients
Helen I. Roessler, Catharina M.L. Volker‐Touw, Gijs van Haaften et al. · Clinical Dysmorphology · 2018 · 13 citations
Author Information, Literary History, Literary Criticism +7
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