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Ba-Abbad, R
165  results:
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1

Ceramide synthase TLCD3B is a novel gene associated with hu..:

Bertrand, RE ; Wang, J ; Xiong, KH...
https://discovery.ucl.ac.uk/id/eprint/10114005/23/Arno_TLCD3B%20retinal%20degeneration_Manuscript_GIM_wdegrees%281%29.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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2

Broadening INPP5E phenotypic spectrum: detection of rare va..:

Sangermano, R ; Deitch, I ; Peter, V.G...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41525-021-00214-8.  , 2021
Link: https://serval.unil.ch/n..
 
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3

Broadening INPP5E phenotypic spectrum: detection of rare va..:

Sangermano, R ; Deitch, I ; Peter, VG...
https://discovery.ucl.ac.uk/id/eprint/10131865/1/s41525-021-00214-8.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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4

CNGB1-related rod-cone dystrophy: A mutation review and upd..:

Nassisi, M ; Smirnov, V ; Hernandez, CS...
https://discovery.ucl.ac.uk/id/eprint/10125918/7/Mahroo_CNGB1-related%20rod-cone%20dystrophy-%20a%20mutation%20review%20and%20update_VoR.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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5

Reanalysis of Association of Pro50Leu Substitution in Guany..:

Mahroo, OA ; Arno, G ; Ba-Abbad, R...
https://discovery.ucl.ac.uk/id/eprint/10088040/1/jamaophthalmology_mahroo_2019_br_190025.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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6

Awareness of olfactory impairment in a cohort of patients w..:

Afshar, F ; Arno, G ; Ba-Abbad, R...
https://discovery.ucl.ac.uk/id/eprint/10081703/1/CNGB1_Eye_30254_0_merged_1566227984.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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7

Macula-predominant retinopathy associated with biallelic va..:

Ba-Abbad, R ; Arno, G ; Robson, AG...
https://discovery.ucl.ac.uk/id/eprint/10109333/1/NOPG-2020-0103.R1_Proof_hi.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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8

A genetic and clinical study of individuals with nonsyndrom..:

Schiff, ER ; Varela, MD ; Robson, AG...
https://discovery.ucl.ac.uk/id/eprint/10107966/1/ajmg.c.31822.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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9

Genetic basis of inherited retinal disease in a molecularly..:

Pontikos, N ; Arno, G ; Jurkute, N...
https://discovery.ucl.ac.uk/id/eprint/10096370/1/1-s2.0-S0161642020303328-main.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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10

Clinical and genetic findings in CTNNA1-associated macular ..:

Tanner, A ; Chan, HW ; Pulido, J...
https://discovery.ucl.ac.uk/id/eprint/10113541/7/Mahroo_1-s2.0-S0161642020310344-main.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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11

A clinical study of patients with novel CDHR1 genotypes ass..:

Ba-Abbad, R ; Robson, AG ; Mahroo, OA...
https://discovery.ucl.ac.uk/id/eprint/10106245/3/Michaelides_s41433-020-1045-3.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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12

Isolated rod dysfunction associated with a novel genotype o..:

Ba-Abbad, R ; Holder, G.E ; Robson, A.G...
Ba-Abbad, R., Holder, G.E., Robson, A.G., Neveu, M.M., Waseem, N., Arno, G., Webster, A.R. (2019). Isolated rod dysfunction associated with a novel genotype of CNGB1. American Journal of Ophthalmology Case Reports 14 : 83-86. ScholarBank@NUS Repository. https://doi.org/10.1016/j.ajoc.2019.03.004.  , 2019
Link: https://scholarbank.nus...
 
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13

Isolated rod dysfunction associated with a novel genotype o..:

Ba-Abbad, R ; Holder, GE ; Robson, AG...
https://discovery.ucl.ac.uk/id/eprint/10072390/1/Abbad_1-s2.0-S2451993618303232-main.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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14

Rod-cone dystrophy associated with the Gly167Asp variant in..:

Ba-Abbad, R ; Robson, AG ; MacPhee, B..
https://discovery.ucl.ac.uk/id/eprint/10074101/1/Michaelides_Ba-Abbad%20et%20al_PRPH2%20Gly167Asp%20retinopathy_manuscript_forOG_letter.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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15

Macular maldevelopment in ATF6-mediated retinal dysfunction:

Ritter, M ; Arno, G ; Ba-Abbad, R..
https://discovery.ucl.ac.uk/id/eprint/10092253/2/Arno_Reiss_Reiss%20%26%20Harms%202019%20What%20now%20for%20evolution%20education.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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