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Reply: To PMID 23041322.
Gunay-Aygun M, Gahl WA. Gunay-Aygun M, et al. Among authors: gahl wa. Gastroenterology. 2013 May;144(5):1156-7. doi: 10.1053/j.gastro.2013.03.041. Epub 2013 Mar 23. Gastroenterology. 2013. PMID: 23528665 No abstract available.
Molecular defects that affect platelet dense granules.
Gunay-Aygun M, Huizing M, Gahl WA. Gunay-Aygun M, et al. Among authors: gahl wa. Semin Thromb Hemost. 2004 Oct;30(5):537-47. doi: 10.1055/s-2004-835674. Semin Thromb Hemost. 2004. PMID: 15497096 Free PMC article. Review.
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. Gunay-Aygun M, et al. Among authors: gahl wa. Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883. Nat Genet. 2011. PMID: 21765412 Free PMC article.
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.
Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C; NISC Comparative Sequencing Program; Markello TC, Gunay-Aygun M, Huizing M, Gahl WA. Cullinane AR, et al. Among authors: gahl wa. J Invest Dermatol. 2011 Oct;131(10):2017-25. doi: 10.1038/jid.2011.157. Epub 2011 Jun 16. J Invest Dermatol. 2011. PMID: 21677667 Free PMC article.
Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis.
Abdul Majeed N, Font-Montgomery E, Lukose L, Bryant J, Veppumthara P, Choyke PL, Turkbey IB, Heller T, Gahl WA, Gunay-Aygun M. Abdul Majeed N, et al. Among authors: gahl wa. Mol Genet Metab. 2020 Sep-Oct;131(1-2):267-276. doi: 10.1016/j.ymgme.2020.08.006. Epub 2020 Sep 3. Mol Genet Metab. 2020. PMID: 32919899 Free PMC article.
715 results