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Developing a community-led rare disease ELSI research agenda.
Berrios C, McBeth M, Bradley-Ewing A, Schuetz N, Campbell A, Talebizadeh Z, Garrett JR, Falicov T, Martinez F; Rare Voices Advisory Group; Hurley EA. Berrios C, et al. Among authors: talebizadeh z. Orphanet J Rare Dis. 2024 Jan 22;19(1):23. doi: 10.1186/s13023-023-02986-x. Orphanet J Rare Dis. 2024. PMID: 38254122 Free PMC article. Review.
Lessons learned from the DFNA37 gene discovery odyssey.
Talebizadeh Z. Talebizadeh Z. Genet Med. 2019 Jul;21(7):1481-1482. doi: 10.1038/s41436-018-0395-8. Epub 2018 Dec 10. Genet Med. 2019. PMID: 30531810 Free article. No abstract available.
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD. Booth KT, et al. Among authors: talebizadeh z. Genet Med. 2019 Apr;21(4):948-954. doi: 10.1038/s41436-018-0285-0. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245514 Free PMC article.
36 results