Helen I Roessler

Years Active: 2019-2021
Publications (10 Years): 4

This page only lists publications with an associated author ORCID identifier.

Publications

Helen I Roessler, Gijs van Haaften, Mieke M van Haelst
Young adult with Cantú syndrome: dealing with a rare genetic skin disorder. BMJ case reports 14 (7) (2021)
Helen I Roessler, Lieke M van der Heuvel, Kathleen Shields, Kristin P Guilliams, Nine V A M Knoers, Gijs van Haaften, Dorothy K Grange, Mieke M van Haelst
Behavioral and cognitive functioning in individuals with Cantú syndrome. American journal of medical genetics. Part A 185 (8) (2021)
Helen I Roessler, Kathleen Shields, Dorothy K Grange, Nine V A M Knoers, Gijs van Haaften, Peter Hammond, Mieke M van Haelst
Three-dimensional facial morphology in Cantú syndrome. American journal of medical genetics. Part A 182 (5) (2020)
Marie F Smeland, Conor McClenaghan, Helen I Roessler, Sanne Savelberg, Geir Åsmund Myge Hansen, Helene Hjellnes, Kjell Arne Arntzen, Kai Ivar Müller, Andreas Rosenberger Dybesland, Theresa Harter, Monica Sala-Rabanal, Chris H Emfinger, Yan Huang, Soma S Singareddy, Jamie Gunn, David F Wozniak, Attila Kovacs, Maarten Massink, Federico Tessadori, Sarah M Kamel, Jeroen Bakkers, Maria S Remedi, Marijke Van Ghelue, Colin G Nichols, Gijs van Haaften
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9. Nature communications 10 (1) (2019)

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