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Author/Creator Buermans, Henk

2. High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect. Issue 5 (24th September 2021)

Authors:
Lemmers, Richard J L F; van der Vliet, Patrick J; Granado, David San Leon; van der Stoep, Nienke; Buermans, Henk; van Schendel, Robin; Schimmel, Joost; de Visser, Marianne; van Coster, Rudy; Jeanpierre, Marc; Laforet, Pascal; Upadhyaya, Meena; van Engelen, Baziel; Sacconi, Sabrina; Tawil, Rabi; V...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 5(2022)
Page Start:
748
Record Type:
Journal Article
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3. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Issue 9 (8th November 2021)

Authors:
Romanelli Tavares, Vanessa Luiza; Guimarães-Ramos, Sofia Ligia; Zhou, Yan; Masotti, Cibele; Ezquina, Suzana; Moreira, Danielle de Paula; Buermans, Henk; Freitas, Renato S; Den Dunnen, Johan T; Twigg, Stephen R F; Passos-Bueno, Maria Rita
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
895
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Issue 9 (8th November 2021)

Authors:
Romanelli Tavares, Vanessa Luiza; Guimarães-Ramos, Sofia Ligia; Zhou, Yan; Masotti, Cibele; Ezquina, Suzana; Moreira, Danielle de Paula; Buermans, Henk; Freitas, Renato S; Den Dunnen, Johan T; Twigg, Stephen R F; Passos-Bueno, Maria Rita
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
895
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗