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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Fasham J, et al. Among authors: hemming r. Genet Med. 2022 Mar;24(3):631-644. doi: 10.1016/j.gim.2021.10.014. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906488 Free PMC article.
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.
Martin DC, Atmuri V, Hemming RJ, Farley J, Mort JS, Byers S, Hombach-Klonisch S, Csoka AB, Stern R, Triggs-Raine BL. Martin DC, et al. Among authors: hemming rj. Hum Mol Genet. 2008 Jul 1;17(13):1904-15. doi: 10.1093/hmg/ddn088. Epub 2008 Mar 15. Hum Mol Genet. 2008. PMID: 18344557
30 results