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Page 1
Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report.
Kidwai FK, Mui BWH, Almpani K, Jani P, Keyvanfar C, Iqbal K, Paravastu SS, Arora D, Orzechowski P, Merling RK, Mallon B, Myneni VD, Ahmad M, Kruszka P, Muenke M, Woodcock J, Gilman JW, Robey PG, Lee JS. Kidwai FK, et al. Among authors: almpani k. J Dev Biol. 2021 Sep 22;9(4):39. doi: 10.3390/jdb9040039. J Dev Biol. 2021. PMID: 34698187 Free PMC article.
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.
Jani P, Nguyen QC, Almpani K, Keyvanfar C, Mishra R, Liberton D, Orzechowski P, Frischmeyer-Guerrerio PA, Duverger O, Lee JS. Jani P, et al. Among authors: almpani k. J Med Genet. 2020 Oct;57(10):699-707. doi: 10.1136/jmedgenet-2019-106678. Epub 2020 Mar 8. J Med Genet. 2020. PMID: 32152251 Free PMC article.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul-Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C, Ma A, Ragnhild G, Wirgenes KV, Tham E, Kvarnung M, Maarup TJ, MacKinnon S, Hunter DG, Collins FS, Manoli I, Engle EC. Whitman MC, et al. Among authors: almpani k. Hum Genet. 2021 Dec;140(12):1709-1731. doi: 10.1007/s00439-021-02379-9. Epub 2021 Oct 15. Hum Genet. 2021. PMID: 34652576 Free PMC article.
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho CH, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Kokitsu-Nakata NM, Tonello C, Vendramini-Pittoli S, da Silva Dalben G, Balasubramanian R, Dwyer AA, Seminara SB, Crowley WF, Plummer L, Hall JE, Graham JM, Lin AE, Shaw ND. Delaney A, et al. Among authors: almpani k. J Clin Endocrinol Metab. 2020 May 1;105(5):1538-51. doi: 10.1210/clinem/dgaa065. J Clin Endocrinol Metab. 2020. PMID: 32034419 Free PMC article.
Successes and Challenges in Clinical Trial Recruitment: The Experience of a New Study Team.
Hung M, Mohajeri A, Almpani K, Carberry G, Wisniewski JF, Janes K, Janes B, Hardy C, Zakeri G, Raymond B, Trinh H, Bretner J, Cheever VJ, Garibyan R, Bachstein P, Licari FW. Hung M, et al. Among authors: almpani k. Med Sci (Basel). 2024 Aug 14;12(3):39. doi: 10.3390/medsci12030039. Med Sci (Basel). 2024. PMID: 39189202 Free PMC article.
Ocular findings in Jansen metaphyseal chondrodysplasia.
Obiezu F, Magone De Quadros Costa MT, Huryn LA, Pan K, Almpani K, Ninan A, Roszko KL, Weinstein LS, Gafni RI, Ferreira CR, Lee J, Collins MT, Jha S. Obiezu F, et al. Among authors: almpani k. JBMR Plus. 2024 Jul 12;8(9):ziae089. doi: 10.1093/jbmrpl/ziae089. eCollection 2024 Sep. JBMR Plus. 2024. PMID: 39108358 Free article.
18 results