| 2012 | Extended molecular and clinical phenotype of human G6PC3 deficiency. Journal of Pediatrics 160:679-683, 2012. PMCID: PMC3718741. | Journal Article | Boztug K, Rosenberg PS, Böhm M, Moulton T, Curtin J, Rezaei N, Corns J, Innis J, Avci Z, Tran HC, Pellier I, Pedini A, Fruge R, Parvaneh N, Darbyshire P, Buchanan GR, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C |
| 2012 | Extended spectrum of human glucose-6- phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr 2012.160: 679-683 PMID: 22050868. | Journal Article | Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C. |
| 2009 | A novel syndrome with congenital neutropenia caused by mutations in G6PC3. N Engl J Med. 2009; 360:32-43. PMCID: PMC2778311. | Journal Article | Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gosler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellane- Chantelot C, Rezaei N, Mönckemöller K, Irani-Hakimeh N, Bakker H, Gerardy- Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C. |