Browsing by Author van Bokhoven, Hans

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Issue DateTitleAuthor(s)Citation
2007Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1Christodoulou, John; Ouvrier, Robert; Banning, Martijn J G; de Brouwer, Arjan P. M.; Donald, Jennifer A; Duley, John; Egmont-Peterson, Michael; Hamel, Ben C J; Lugtenberg, Dorien; Nabuurs, Sander B; Roeffen, Melissa; van Bokhoven, Hans; van Kuilenburg, Andre B P; Weaving, Linda; Wevers, Ron A.; Williams, Kelly; Zoetekouw, Lida; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthArts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1, American Journal of Human Genetics, vol.81,(3),2007,pp 507-518
2012Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-IChristodoulou, John; de Brouwer, Arjan P. M.; Duley, John; Friedman, Neil; Moran, Rocio; Nabuurs, Sander B; Retno-Fitri, Aditia; Roelofsen, Jeroen; van Bokhoven, Hans; van Kuilenburg, Andre B P; Yntema, Helger; Children's Hospital Westmead: Paediatrics & Child HealthPhosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I, American Journal of Medical Genetics. Part A, vol.158A, 2, 2012,pp 455-460
2010PRPS1 mutations: four distinct syndromes and potential treatmentChristodoulou, John; Arts, Willem Frans; de Brouwer, Arjan P. M.; Duley, John; Nabuurs, Sander B; van Bokhoven, Hans; Children's Hospital Westmead: Paediatrics & Child HealthPRPS1 mutations: four distinct syndromes and potential treatment, American Journal of Human Genetics, vol.86, 4,pp 506-518