Browse by all authors Browse By Author Name - de+Brouwer,+Arjan+P.+M.

Browse Results (5 results found)

Subscribe to the RSS feed for this result setSubscribe to the RSS feed for this result set

  Abstract Views File Downloads Thomson Reuters Web of Science Citation Count Scopus Citation Count Altmetric Score
de Brouwer, Arjan P. M., Duley, John A. and Christodoulou, John (2008). Arts syndrome. In Roberta A. Pagon, Thomas D. Bird, Cynthia R. Dolan, Richard J.H. Smith and Karen G. Stephens (Ed.), GeneReviews (pp. x-x) Seattle, WA, U.S.A.: University of Washington, Seattle. 98  
De Brouwer, Arjan P. M., Duley, John A. and Christodoulou, John (2013). Phosphoribosylpyrophosphate Synthetase Superactivity. In GeneReviews (pp. ---) Seattle, WA, United States: University of Washington. 52 6
Moran, Rocio, Kuilenburg, Andre B. P., Duley, John, Nabuurs, Sander B., Retno-Fitri, Aditia, Christodoulou, John, Roelofsen, Jeroen, Yntema, Helger G., Friedman, Neil R., van Bokhoven, Hans and de Brouwer, Arjan P. M. (2012) Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. American Journal of Medical Genetics Part A, 158A 2: 455-460. doi:10.1002/ajmg.a.34428 45   5 Cited 4 times in Scopus4 0
de Brouwer, Arjan P. M., van Bokhoven, H., Nabuurs, S. B., Arts, W. F., Christodoulou, J. and Duley, John (2010) PRPS1 mutations: Four distinct syndromes and potential treatment. American Journal of Human Genetics, 86 4: 506-518. doi:10.1016/j.ajhg.2010.02.024 47   23 Cited 23 times in Scopus23 0
Duley, John A., Christodoulou, John and de Brouwer, Arjan P. M. (2011) The PRPP synthetase spectrum: What does it demonstrate about nucleotide syndromes?. Nucleosides, Nucleotides and Nucleic Acids, 30 12: 1129-1139. doi:10.1080/15257770.2011.591747 33 1 9 Cited 7 times in Scopus7 0