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Year Number of Results
2012 2
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2016 2
2017 5
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2019 6
2020 12
2021 7
2022 6
2023 0
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46 results
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Page 1
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Among authors: jasien j. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Opportunities, barriers, and recommendations in down syndrome research.
Hendrix JA, Amon A, Abbeduto L, Agiovlasitis S, Alsaied T, Anderson HA, Bain LJ, Baumer N, Bhattacharyya A, Bogunovic D, Botteron KN, Capone G, Chandan P, Chase I, Chicoine B, Cieuta-Walti C, DeRuisseau LR, Durand S, Esbensen A, Fortea J, Giménez S, Granholm AC, Hahn LJ, Head E, Hillerstrom H, Jacola LM, Janicki MP, Jasien JM, Kamer AR, Kent RD, Khor B, Lawrence JB, Lemonnier C, Lewanda AF, Mobley W, Moore PE, Nelson LP, Oreskovic NM, Osorio RS, Patterson D, Rasmussen SA, Reeves RH, Roizen N, Santoro S, Sherman SL, Talib N, Tapia IE, Walsh KM, Warren SF, White AN, Wong GW, Yi JS. Hendrix JA, et al. Among authors: jasien jm. Transl Sci Rare Dis. 2021;5(3-4):99-129. doi: 10.3233/trd-200090. Epub 2021 Apr 15. Transl Sci Rare Dis. 2021. PMID: 34268067 Free PMC article.
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Among authors: jasien j. Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. Am J Hum Genet. 2018. PMID: 30193138 Free PMC article. No abstract available.
Identification of Candidate miRNA Biomarkers for Glaucoma.
Hindle AG, Thoonen R, Jasien JV, Grange RMH, Amin K, Wise J, Ozaki M, Ritch R, Malhotra R, Buys ES. Hindle AG, et al. Among authors: jasien jv. Invest Ophthalmol Vis Sci. 2019 Jan 2;60(1):134-146. doi: 10.1167/iovs.18-24878. Invest Ophthalmol Vis Sci. 2019. PMID: 30629727 Free PMC article.
Social impairments in alternating hemiplegia of childhood.
Uchitel J, Abdelnour E, Boggs A, Prange L, Pratt M, Bonner M, Jasien J, Dawson G, Abrahamsen T, Mikati MA. Uchitel J, et al. Among authors: jasien j. Dev Med Child Neurol. 2020 Jul;62(7):820-826. doi: 10.1111/dmcn.14473. Epub 2020 Feb 7. Dev Med Child Neurol. 2020. PMID: 32031250 Free article.
Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood.
Parker LE, Wallace K, Thevathasan A, Funk E, Pratt M, Thamby J, Tran L, Prange L, Uchitel J, Boggs A, Minton M, Jasien J, Nagao KJ, Richards A, Cruse B, De-Lisle Dear G, Landstrom AP, Mikati MA. Parker LE, et al. Among authors: jasien j. Eur J Paediatr Neurol. 2022 May;38:47-52. doi: 10.1016/j.ejpn.2022.03.007. Epub 2022 Mar 29. Eur J Paediatr Neurol. 2022. PMID: 35390560
46 results