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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. Assoum M, et al. Among authors: mireskandari k. Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889060 Free PMC article.
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Walker S, Lamoureux S, Khan T, Joynt ACM, Bradley M, Branson HM, Carter MT, Hayeems RZ, Jagiello L, Marshall CR, Meyn MS, Miller SP, Wilson D, Scherer SW, Blaser S, Mireskandari K, Costain G. Walker S, et al. Among authors: mireskandari k. Am J Med Genet A. 2021 Oct;185(10):3129-3135. doi: 10.1002/ajmg.a.62389. Epub 2021 Jun 22. Am J Med Genet A. 2021. PMID: 34159711
Aseptic pediatric orbital cellulitis: retinoblastoma until otherwise proven.
Pinto A, Puente M Jr, Shaikh F, Mireskandari K, Gallie B, Soliman SE. Pinto A, et al. Among authors: mireskandari k. Ophthalmic Genet. 2019 Oct;40(5):488-492. doi: 10.1080/13816810.2019.1681010. Epub 2019 Oct 24. Ophthalmic Genet. 2019. PMID: 31647343 No abstract available.
Reply.
Elbaz U, Mireskandari K, Tehrani N, Shen C, Khan MS, Williams S, Ali A. Elbaz U, et al. Among authors: mireskandari k. Am J Ophthalmol. 2017 Jun;178:186-187. doi: 10.1016/j.ajo.2017.03.017. Epub 2017 Apr 5. Am J Ophthalmol. 2017. PMID: 28390651 No abstract available.
An 11-Year-Old Boy With Vision Loss.
Jacobson D, Mireskandari K, Cohen E. Jacobson D, et al. Among authors: mireskandari k. JAMA Pediatr. 2017 Dec 1;171(12):1226-1227. doi: 10.1001/jamapediatrics.2017.2543. JAMA Pediatr. 2017. PMID: 28973072 No abstract available.
120 results