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TBCK syndrome: a rare multi-organ neurodegenerative disease.
Trends Mol Med. 2023 Oct;29(10):783-785. doi: 10.1016/j.molmed.2023.06.009. Epub 2023 Jul 14.
Trends Mol Med. 2023.
PMID: 37455236
Free PMC article.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM.
Layo-Carris DE, et al. Among authors: bhoj ejk.
Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38678163
Free article.
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KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.
Gracia-Diaz C, Perdomo JE, Khan ME, Roule T, Disanza BL, Cajka GG, Lei S, Gagne AL, Maguire JA, Shalem O, Bhoj EJ, Ahrens-Nicklas RC, French DL, Goldberg EM, Wang K, Glessner JT, Akizu N.
Gracia-Diaz C, et al.
Cell Stem Cell. 2024 Mar 7;31(3):288-289. doi: 10.1016/j.stem.2024.02.007.
Cell Stem Cell. 2024.
PMID: 38458176
No abstract available.
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The Virtual Summer Research Program: supporting future physician-scientists from underrepresented backgrounds.
Macedo B, Christophers B, Barrere-Cain R, Albrecht YS, Granovetter MC, Kumar R, Daye D, Bhoj E, Brass L, Rodrigues JA.
Macedo B, et al.
J Clin Transl Sci. 2022 Aug 22;6(1):e120. doi: 10.1017/cts.2022.447. eCollection 2022.
J Clin Transl Sci. 2022.
PMID: 36285020
Free PMC article.
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