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Nucleosides, Nucleotides & Nucleic Acids|December 3, 2011
The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?John A Duley, John Christodoulou, Arjan P M de Brouwer
Molecular Diagnosis & Therapy|June 15, 2006
Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblastsArjan P M de Brouwer, Hans van Bokhoven, Hannie Kremer
Hearing Research|April 28, 2005
GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutationsErsan Kalay, Refik Caylan, Hannie Kremer, et al.
BMC Genomics|December 21, 2021
Intellectual disability genomics: current state, pitfalls and future challengesNuno Maia, Maria João Nabais Sá, Manuel Melo-Pires, et al.
American Journal of Human Genetics|August 16, 2006
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndromeRafaella M P Nascimento, Paulo A Otto, Arjan P M de Brouwer, et al.
International Journal of Audiology|November 30, 2012
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapyXue Zhong Liu, Dinghua Xie, Hui Jun Yuan, et al.
American Journal of Human Genetics|April 13, 2010
PRPS1 mutations: four distinct syndromes and potential treatmentArjan P M de Brouwer, Hans van Bokhoven, Sander B Nabuurs, et al.
Molecular Genetics & Genomic Medicine|August 16, 2019
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patientDaniel L Polla, Harriet R Saunders, Bert B A de Vries, et al.
FEMS Yeast Research|February 2, 2013
The contribution of the nonhomologous region of Prs1 to the maintenance of cell wall integrity and cell viabilityEziuche A Ugbogu, Sonja Wippler, Matthew Euston, et al.
JIMD Reports|September 28, 2015
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)Roeltje R Maas, Adela Della Marina, Arjan P M de Brouwer, et al.
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