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163 results

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Page 1
Making progress in albinism.
Brooks BP. Brooks BP. J AAPOS. 2011 Feb;15(1):1-2. doi: 10.1016/j.jaapos.2011.01.002. J AAPOS. 2011. PMID: 21397796 No abstract available.
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.
Neelathi UM, Ullah E, George A, Maftei MI, Boobalan E, Sanchez-Mendoza D, Adams C, McGaughey D, Sergeev YV, Rawi RA, Naik A, Bender C, Maumenee IH, Michaelides M, Tan TG, Lin S, Villasmil R, Blain D, Hufnagel RB, Arno G, Young RM, Guan B, Brooks BP. Neelathi UM, et al. Among authors: brooks bp. Res Sq [Preprint]. 2024 Nov 15:rs.3.rs-5375105. doi: 10.21203/rs.3.rs-5375105/v1. Res Sq. 2024. PMID: 39606449 Free PMC article. Preprint.
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.
Neelathi UM, Ullah E, George A, Maftei MI, Boobalan E, Sanchez-Mendoza D, Adams C, McGaughey D, Sergeev YV, Rawi RA, Naik A, Bender C, Maumenee IH, Michaelides M, Tan TG, Lin S, Villasmil R, Blain D, Hufnagel RB, Arno G, Young RM, Guan B, Brooks BP. Neelathi UM, et al. Among authors: brooks bp. medRxiv [Preprint]. 2024 Nov 11:2024.11.09.24316578. doi: 10.1101/2024.11.09.24316578. medRxiv. 2024. PMID: 39606382 Free PMC article. Preprint.
Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014.
Mitchell DL, Chambers TM, Agopian AJ, Benjamin RH, Shumate CJ, Slavotinek A, Hufnagel RB, Brooks BP, Mitchell LE, Lupo PJ. Mitchell DL, et al. Among authors: brooks bp. Birth Defects Res. 2024 Nov;116(11):e2413. doi: 10.1002/bdr2.2413. Birth Defects Res. 2024. PMID: 39530497
GM1 gangliosidosis type II: Results of a 10-year prospective study.
D'Souza P, Farmer C, Johnston JM, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan CP, Myles J, Nicoli ER, Rothermel CE, Mojica Algarin Y, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier DS, Brooks BP, Acosta MT, Baker EH, Vézina G, Thurm A, Tifft CJ. D'Souza P, et al. Among authors: brooks bp. Genet Med. 2024 Jul;26(7):101144. doi: 10.1016/j.gim.2024.101144. Epub 2024 Apr 16. Genet Med. 2024. PMID: 38641994
The qMini assay identifies an overlooked class of splice variants.
Guan B, Bender C, Pantrangi M, Moore N, Reeves M, Naik A, Li H, Goetz K, Blain D, Agather A, Cukras C, Zein WM, Huryn LA, Brooks BP, Hufnagel RB. Guan B, et al. Among authors: brooks bp. medRxiv [Preprint]. 2023 Nov 3:2023.11.02.23297963. doi: 10.1101/2023.11.02.23297963. medRxiv. 2023. PMID: 38076877 Free PMC article. Preprint.
163 results