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Author/Creator Willemsen, M.H.

1. De novo loss‐of‐function mutations in X‐linked SMC1A cause severe ID and therapy‐resistant epilepsy in females: expanding the phenotypic spectrum. Issue 5 (14th February 2016)

Authors:
Jansen, S.; Kleefstra, T.; Willemsen, M.H.; de Vries, P.; Pfundt, R.; Hehir‐Kwa, J.Y.; Gilissen, C.; Veltman, J.A.; de Vries, B.B.A.; Vissers, L.E.L.M.
Journal:
Clinical genetics
Issue:
Volume 90:Issue 5(2016)
Page Start:
413
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. Issue 5 (14th April 2018)

Authors:
van den Akker, W.M.R.; Brummelman, I.; Martis, L.M.; Timmermans, R.N.; Pfundt, R.; Kleefstra, T.; Willemsen, M.H.; Gerkes, E.H.; Herkert, J.C.; van Essen, A.J.; Rump, P.; Vansenne, F.; Terhal, P.A.; van Haelst, M.M.; Cristian, I.; Turner, C.E.; Cho, M.T.; Begtrup, A.; Willaert, R.; Fassi, E.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 5(2018)
Page Start:
1000
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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