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Therapeutic Advances in Rare Disease|July 31, 2024
Koolen-de Vries Syndrome: a journey from diagnosis to treatmentsAnna C Pfalzer, Blake Ivers, Alayna Haynam, et al.Neuroscience|March 21, 2007
Identification of an immune-responsive mesolimbocortical serotonergic system: potential role in regulation of emotional behaviorC A Lowry, J H Hollis, A de Vries, et al.European Journal of Clinical Investigation|June 18, 2016
Leucocyte-bound apolipoprotein B in the circulation is inversely associated with the presence of clinical and subclinical atherosclerosisMarijke A de Vries, Boudewijn Klop, Noëlle van der Meulen, et al.Human Molecular Genetics|December 23, 2020
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalusMaria J Nabais Sá, Alexandra N Olson, Grace Yoon, et al.Human Mutation|December 17, 2008
Genomic microarrays in mental retardation: a practical workflow for diagnostic applicationsDavid A Koolen, Rolph Pfundt, Nicole de Leeuw, et al.Nature Genetics|October 7, 2003
Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selectionSjoerd Repping, Helen Skaletsky, Laura Brown, et al.JAMA Ophthalmology|May 17, 2014
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1Anna M Siemiatkowska, Janneke H M Schuurs-Hoeijmakers, Danielle G M Bosch, et al.European Journal of Human Genetics : EJHG|July 12, 2020
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disordersIlse M van der Werf, Sandra Jansen, Petra F de Vries, et al.Zentralblatt Fur Chirurgie|May 23, 2007
[Quality indicators for diagnostic and therapy of rectal carcinoma]R Bittner, J Burghardt, E Gross, et al.Journal of Viral Hepatitis|November 25, 2003
Daily induction combination treatment with alpha 2b interferon and ribavirin or standard combination treatment in naive chronic hepatitis C patients. A multicentre randomized controlled trialH Van Vlierberghe, G Leroux-Roels, M Adler, et al.Pageof 88