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1 . Academic Journal
The Clinical and Mutational Spectrum of Bardet–Biedl Syndrome in Saudi Arabia
저자
by
Doaa Milibari
;
Sawsan R. Nowilaty
;
Rola Ba-Abbad
.
소스
Genes, Vol 15, Iss 6, p 762 (2024)
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5 . Academic Journal
Enhanced Learning and Memory in Patients with CRB1 Retinopathy
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by
Genevieve A. Wright
;
Ana Catalina Rodriguez-Martinez
;
Hanne Conn
;
Mar Matarin
;
Pamela Thompson
, et al.
소스
Genes, Vol 15, Iss 6, p 660 (2024)
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7 . Academic Journal
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
저자
by
Riccardo Sangermano
;
Iris Deitch
;
Virginie G. Peter
;
Rola Ba-Abbad
;
Emily M. Place
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
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7 . Academic Journal
Isolated rod dysfunction associated with a novel genotype of CNGB1
저자
by
Rola Ba-Abbad
;
Graham E. Holder
;
Anthony G. Robson
;
Magella M. Neveu
;
Naushin Waseem
, et al.
소스
American Journal of Ophthalmology Case Reports, Vol 14, Iss , Pp 83-86 (2019)
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7 .
Phenotypic and genotypic features of POC1B-associated cone dystrophy
저자
by
Tariq A. Alzahem
;
Abdulwahab AlTheeb
;
Rola Ba-Abbad
.
소스
Ophthalmic Genetics
. :1-6
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5 .
MONOZYGOTIC TWINS DISCORDANT FOR ASYMMETRIC PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
저자
by
Naomi Fischer
;
Andrew R. Webster
;
Emma Duignan
;
Anthony G. Robson
;
Rola Ba-Abbad
.
소스
RETINAL Cases & Brief Reports
. 16:507-510
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7 .
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy
저자
by
Chinthana Thangavel
;
Gavin Arno
;
Renae Elaine Bertrand
;
Rui Chen
;
Anthony G. Robson
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
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7 .
Macula-predominant retinopathy associated with biallelic variants in RDH12
저자
by
Anthony G. Robson
;
Konstantinos Bouras
;
Rola Ba-Abbad
;
Andrew R. Webster
;
Gavin Arno
, et al.
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Ophthalmic Genetics
. 41:612-615
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7 .
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy
저자
by
Michel Michaelides
;
Genevieve A. Wright
;
Omar A. Mahroo
;
Andrew R. Webster
;
Elena R. Schiff
, et al.
소스
Eye
. 35:1482-1489
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7 .
Macular maldevelopment inATF6-mediated retinal dysfunction
저자
by
Graham E. Holder
;
Andrew R. Webster
;
Rola Ba-Abbad
;
Markus Ritter
;
Gavin Arno
.
소스
Ophthalmic Genetics
. 40:564-569
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