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Clinical Dysmorphology|July 1, 1997
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopiaY Hilhorst-Hofstee, P M Watkin, C M Hall, et al.
Case Reports in Medicine|July 22, 2011
Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defectL Rozendaal, N A Blom, Y Hilhorst-Hofstee, et al.
Clinical Dysmorphology|May 29, 2000
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?Y Hilhorst-Hofstee, N Shah, D Atherton, et al.
European Journal of Medical Genetics|December 9, 2008
Compound-heterozygous Marfan syndromeF S Van Dijk, B C Hamel, Y Hilhorst-Hofstee, et al.
European Journal of Medical Genetics|January 16, 2007
A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial featuresM J V Hoffer, Y Hilhorst-Hofstee, J Knijnenburg, et al.
American Journal of Human Genetics|June 12, 1999
Noninvasive test for fragile X syndrome, using hair root analysisR Willemsen, B Anar, Y De Diego Otero, et al.
Human Genetics|June 1, 2000
Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISHV Bezrookove, K Hansson, M van der Burg, et al.
Clinical Genetics|July 19, 2012
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissectionY Hilhorst-Hofstee, A J H A Scholte, M E B Rijlaarsdam, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|March 5, 2010
Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutationJ J J Aalberts, A G Schuurman, G Pals, et al.
Clinical Genetics|August 2, 2011
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthoodM Klaassens, E Reinstein, Y Hilhorst-Hofstee, et al.
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