Mizzi K - Search Results

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Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat.

Pritchard EC, Haase B, Wall MJ, O'Brien CR, Gowan R, Mizzi K, Kicinski A, Podadera J, Boland LA. Pritchard EC, et al. Among authors: mizzi k. J Feline Med Surg. 2024 May;26(5):1098612X241241408. doi: 10.1177/1098612X241241408. J Feline Med Surg. 2024. PMID: 38717789 Free PMC article.

Candidate causative variant for xanthinuria in a Domestic Shorthair cat.

Pritchard E, Samaha G, Mizzi K, Boland L; 99Lives Consortium; Haase B. Pritchard E, et al. Among authors: mizzi k. Anim Genet. 2023 Aug;54(4):576-580. doi: 10.1111/age.13318. Epub 2023 Mar 27. Anim Genet. 2023. PMID: 36970934

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient.

Greer K, Mizzi K, Rice E, Kuster L, Barrero RA, Bellgard MI, Lynch BJ, Foley AR, O Rathallaigh E, Wilton SD, Fletcher S. Greer K, et al. Among authors: mizzi k. Mol Genet Genomic Med. 2015 Jul;3(4):320-6. doi: 10.1002/mgg3.144. Epub 2015 Apr 15. Mol Genet Genomic Med. 2015. PMID: 26247048 Free PMC article.

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