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32 results

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Page 1
Enhanced Learning and Memory in Patients with CRB1 Retinopathy.
Wright GA, Rodriguez-Martinez AC, Conn H, Matarin M, Thompson P, Moore AT, Ba-Abbad R, Webster AR, Moosajee M. Wright GA, et al. Among authors: ba abbad r. Genes (Basel). 2024 May 22;15(6):660. doi: 10.3390/genes15060660. Genes (Basel). 2024. PMID: 38927596 Free PMC article.
PRPS1-associated retinopathy: a diagnostic odyssey.
Alzahem TA, AlTheeb A, Ba-Abbad R. Alzahem TA, et al. Among authors: ba abbad r. Ophthalmic Genet. 2024 Aug;45(4):404-408. doi: 10.1080/13816810.2024.2321871. Epub 2024 Apr 15. Ophthalmic Genet. 2024. PMID: 38619019
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y, Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M. Daich Varela M, et al. Among authors: ba abbad r. Ophthalmol Retina. 2023 Oct;7(10):918-931. doi: 10.1016/j.oret.2023.06.007. Epub 2023 Jun 17. Ophthalmol Retina. 2023. PMID: 37331655 Free PMC article.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Moreno Traspas R, et al. Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21. Nat Genet. 2022. PMID: 35864190 Free PMC article.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano R, Deitch I, Peter VG, Ba-Abbad R, Place EM, Zampaglione E, Wagner NE, Fulton AB, Coutinho-Santos L, Rosin B, Dunet V, AlTalbishi A, Banin E, Sousa AB, Neves M, Larson A, Quinodoz M, Michaelides M, Ben-Yosef T, Pierce EA, Rivolta C, Webster AR, Arno G, Sharon D, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: ba abbad r. NPJ Genom Med. 2021 Jun 29;6(1):53. doi: 10.1038/s41525-021-00214-8. NPJ Genom Med. 2021. PMID: 34188062 Free PMC article.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Among authors: ba abbad r. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
Tanner A, Chan HW, Pulido JS, Arno G, Ba-Abbad R, Jurkute N, Robson AG, Egan CA, Knight H, Calcagni A, Taylor RL, Lenassi E, Black GC, Moore AT, Michaelides M, Webster AR, Mahroo OA. Tanner A, et al. Among authors: ba abbad r. Ophthalmology. 2021 Jun;128(6):952-955. doi: 10.1016/j.ophtha.2020.10.032. Epub 2020 Nov 1. Ophthalmology. 2021. PMID: 33137351 Free PMC article. No abstract available.
32 results