Mieke van Haelst
13PUBLICATIONS
78CO-AUTHORS
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Publications (13)
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|Oct 21, 2025
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.Claudio Peter D'Incal, Bram Dierckx, Claudia Vingerhoets
|Oct 01, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.Liselot van der Laan, Karim Karimi, Kathleen Rooney
|Mar 31, 2025
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.Milou G P Kennis, Dmitrijs Rots, Arjan Bouman
|Jul 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.Hélène Dollfus, Marc R Lilien, Pietro Maffei
|May 29, 2024
Clinical phenotypes of adults with monogenic and syndromic genetic obesity.Mila S Welling, Mostafa Mohseni, Renate E H Meeusen
|Apr 11, 2024
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.Niels Vos, Lotte Kleinendorst, Liselot van der Laan
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Frequent Collaborators
3 joint publications
Liselot van der Laan
2 joint publications
Gijs van Haaften
2 joint publications
R Frank Kooy
2 joint publications
Anke Van Dijck
2 joint publications
Dale John Annear
2 joint publications
Ligia Mateiu
2 joint publications
Claudio Peter D'Incal
2 joint publications
Bekim Sadikovic
2 joint publications
Erica L T van den Akker
2 joint publications
Lotte Kleinendorst
