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Journal of Hepatology|December 2, 1998
Triple therapy with ursodeoxycholic acid, prednisone and azathioprine in primary biliary cirrhosis: a 1-year randomized, placebo-controlled studyF H Wolfhagen, H J van Hoogstraten, H R van Buuren, et al.
Journal of Medical Genetics|September 20, 2005
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGHD Lugtenberg, A P M de Brouwer, T Kleefstra, et al.
Ophthalmology|August 11, 2024
The Clinical Usefulness of a Glaucoma Polygenic Risk Score in 4 Population-Based European Ancestry CohortsVictor A de Vries, Akiko Hanyuda, Joëlle E Vergroesen, et al.
American Journal of Medical Genetics. Part A|May 3, 2008
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotypeMariëlle E M Swinkels, Annet Simons, Dominique F Smeets, et al.
The New England Journal of Medicine|October 5, 2012
Diagnostic exome sequencing in persons with severe intellectual disabilityJoep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, et al.
Biological Psychiatry|May 5, 2018
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNPAnke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, et al.
Molecular Psychiatry|February 25, 2015
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDB W M van Bon, B P Coe, R Bernier, et al.
Journal of Medical Genetics|September 13, 2005
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneM C J Jongmans, R J Admiraal, K P van der Donk, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.
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