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Page 1
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM. Williams LB, et al. Among authors: kinard k. Genet Med. 2019 Sep;21(9):2103-2115. doi: 10.1038/s41436-019-0476-3. Epub 2019 Apr 10. Genet Med. 2019. PMID: 30967659 Free PMC article.
Neuro-ophthalmic disorders in pregnancy.
Digre KB, Kinard K. Digre KB, et al. Among authors: kinard k. Continuum (Minneap Minn). 2014 Feb;20(1 Neurology of Pregnancy):162-76. doi: 10.1212/01.CON.0000443843.25686.62. Continuum (Minneap Minn). 2014. PMID: 24492817 Free PMC article. Review.
Blepharospasm in children and adolescents.
Kinard K, Miller NR, Digre KB, Katz BJ, Crum AV, Warner JE. Kinard K, et al. Childs Nerv Syst. 2016 Feb;32(2):355-8. doi: 10.1007/s00381-015-2938-5. Epub 2015 Oct 28. Childs Nerv Syst. 2016. PMID: 26510653
Ataxia at the Masquerade Ball.
Kinard K, Osborn AG, Palmer CA, Warner JE, Katz BJ, Crum AV, DeWitt LD, Sonnen JA, Digre KB. Kinard K, et al. J Neuroophthalmol. 2015 Sep;35(3):315-8. doi: 10.1097/WNO.0000000000000265. J Neuroophthalmol. 2015. PMID: 26067029 No abstract available.
15 results