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1993 1
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Page 1
FRMD7-Related Infantile Nystagmus.
Thomas MG, Maconachie G, Hisaund M, Gottlob I. Thomas MG, et al. Among authors: hisaund m. 2009 Feb 12 [updated 2018 Aug 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Feb 12 [updated 2018 Aug 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301748 Free Books & Documents. Review.
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Among authors: hisaund m. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.
Ocular Manifestations of PNPT1-Related Neuropathy.
Kuht HJ, Thomas KA, Hisaund M, Maconachie GDE, Thomas MG. Kuht HJ, et al. Among authors: hisaund m. J Neuroophthalmol. 2021 Sep 1;41(3):e293-e296. doi: 10.1097/WNO.0000000000001012. J Neuroophthalmol. 2021. PMID: 34415280 No abstract available.
Discordant phenotypes in twins with infantile nystagmus.
Aamir A, Kuht HJ, McLean RJ, Maconachie GDE, Sheth V, Dawar B, Purohit R, Sylvius N, Hisaund M, Zubcov-Iwantscheff A, Proudlock FA, Gottlob I, Thomas MG. Aamir A, et al. Among authors: hisaund m. Sci Rep. 2021 Feb 2;11(1):2826. doi: 10.1038/s41598-021-82368-0. Sci Rep. 2021. PMID: 33531592 Free PMC article.
Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.
Thomas MG, Maconachie GDE, Constantinescu CS, Chan WM, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S, Engle EC, Gottlob I. Thomas MG, et al. Among authors: hisaund m. Br J Ophthalmol. 2020 Apr;104(4):547-550. doi: 10.1136/bjophthalmol-2019-314293. Epub 2019 Jul 13. Br J Ophthalmol. 2020. PMID: 31302631 Free PMC article.