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29 results

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Page 1
Carboxypeptidase D deficiency causes hearing loss amenable to treatment.
Ramzan M, Ortiz-Vega N, Zafeer MF, Lobato AG, Atik T, Abad C, Vadgama N, Duman D, Bozan N, Avcı Durmuşalioǧlu E, Greene S, Guo S, Tokgöz-Yılmaz S, Yekedüz MK, Eminoğlu FT, Aydın M, Seyhan S, Karakikes I, Camarena V, Robayo MC, Canic T, Bademci G, Wang G, Farooq A, Joiner ML, Walz K, Eberl DF, Nasir J, Zhai RG, Tekin M. Ramzan M, et al. Among authors: zafeer mf. J Clin Invest. 2025 Sep 30;135(23):e192090. doi: 10.1172/JCI192090. eCollection 2025 Dec 1. J Clin Invest. 2025. PMID: 41026541 Free PMC article.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. Among authors: zafeer mf. J Med Genet. 2025 Jan 27;62(2):117-122. doi: 10.1136/jmg-2024-109908. J Med Genet. 2025. PMID: 39643435 Free PMC article.
Gene therapy for hereditary deafness.
Smith C, Zafeer MF, Tekin M. Smith C, et al. Among authors: zafeer mf. Nat Med. 2024 Jul;30(7):1828-1829. doi: 10.1038/s41591-024-03004-8. Nat Med. 2024. PMID: 38839898 No abstract available.
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
Camarena V, Williams MM, Morales AA, Zafeer MF, Kilic OV, Kamiar A, Abad C, Rasmussen MA, Briski LM, Peart L, Bademci G, Barbouth DS, Smithson S, Wang G, Shehadeh LA, Walz K, Tekin M. Camarena V, et al. Among authors: zafeer mf. JCI Insight. 2024 Feb 1;9(5):e174417. doi: 10.1172/jci.insight.174417. JCI Insight. 2024. PMID: 38300707 Free PMC article.
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L, Gonzalez J, Morel Swols D, Duman D, Saridogan T, Ramzan M, Zafeer MF, Liu XZ, Eshraghi AA, Hoffer ME, Angeli SI, Bademci G, Blanton S, Smith C, Telischi FF, Tekin M. Peart L, et al. Among authors: zafeer mf. Hum Genomics. 2023 Nov 24;17(1):103. doi: 10.1186/s40246-023-00556-7. Hum Genomics. 2023. PMID: 37996878 Free PMC article.
29 results