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dr. E.H. (Eva) Brilstra

dr. E.H. (Eva) Brilstra

Assistant Professor - medical

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Research Output (146)

Novel loci and candidate genes for autism spectrum disorder detected by SNP array based segmental aneuploidy screening

van Daalen E., Verbeek N.E., Ozgen H.M., Vorstman J.A.S., Jonge M., van ´t Slot R., Brilstra E.H., Freitag C.M., Hochstenbach R., Poot M. 2009, p. 93 1 p.

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Dibbens L.M., Mullen S., Helbig I., EPICURE Consortium x, Kasteleijn-Nolst Trenité D., Koeleman B.P.C., Brilstra E.H., de Kovel C.G.F., Swinkels M.E.M., Lindhout D., et al. X 2009, In: Human Molecular Genetics. 18 , p. 3626-3631 6 p.

Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array-based segmental aneuploidy screening

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., de Jonge M.V., Staal W.G., Vorstman J.A.S., Ippel P.F., van den Boogaard M.J.H., Terhal P.A., Beemer F.A., van der Smagt J.J., Brilstra E.H., Visser G., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach R. 31 May 2008, p. 135 1 p.

Novel inherited and de novo loci for autism in patients with additional mental retardation and significant co-morbidity

Poot M., Ozgen M.H., van Daalen E., Verbeek N.E., de Jonge M.V., Brilstra E.H., van den Boogaard M.J.H., Terhal P.A., Ippel P.F., Beemer F.A., Kroes H.Y., van der Smagt J.J., van ´t Slot R., Nelen M.R., van Binsbergen E., Visser G., Rump P., Dijkhuizen T., Vorstman J.A.S., Jalali G.R., Emanuel B.S., van der Zwaag B., Burbach J.P.H., Staal W.G., van Engeland H., Ploos van Amstel J.K., Hochstenbach R. 31 May 2008,

Epilepsie en het SCN1A-gen

Dekker N., Van Kempen M. J.A., Lindhout D., Van Nieuwenhuizen O., Brilstra E. H. 1 Jan 2008, In: Tijdschrift voor Kindergeneeskunde. 76 , p. 254-258 5 p.

Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array based segmental aneuploidy screening

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., Staal W.G., Vorstman J.A.S., de Jonge M.V., Ippel P.F., van den Boogaard M.J.H., Beemer F.A., van der Smagt J.J., Brilstra E.H., Jalali G.R., Emmanuel B.S., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach P.F.R. 23 Oct 2007,

SNP array based segmental aneuploidy screening reveals frequent 22q11 duplications in patients with non-syndromic autism spectrum disorders

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., Staal W.G., Vorstman J.A.S., de Jonge M.V., Ippel P.F., van den Boogaard M.J.H., Beemer F.A., van der Smagt J.J., Brilstra E.H., Terhal P.A., Visser G., Jalali G.R., Emanuel B.S., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach P.F.R. 23 Oct 2007,

Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array based segmental aneuploidy screening

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., Staal W.G., Vorstman J.A.S., de Jonge M.V., Ippel P.F., van den Boogaard M.J.H., Beemer F.A., van der Smagt J.J., Brilstra E.H., Jalali G.R., Emmanuel B.S., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach P.F.R. 22 Oct 2007,

Searching for subtle features of laxity of connective tissue in patients with ruptured intracranial aneurysms: a pilot study.

Wolswijk R.H., Ruigrok Y.M., Rinkel G.J.E., Brilstra E.H., Engelbert R.H.H. 2007, In: Cerebrovascular Diseases. 24 , p. 51-55 5 p.

Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array based segmental aneuploidy screening

Poot M., Verbeek N.E., van ´t Slot R., Nelen M.R., van der Zwaag B., van Daalen E., Staal W.G., Vorstman J.A.S., de Jonge M.V., Ippel P.F., van den Boogaard M.J.H., Beemer F.A., van der Smagt J.J., Brilstra E.H., Jalali G.R., Emmanuel B.S., van Engeland H., Burbach J.P.H., Ploos van Amstel J.K., Hochstenbach P.F.R. 2007, p. 374 1 p.

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