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11 .
Clinical and molecular characterization of enhanced S-cone syndrome in children
저자
by
Anthony T. Moore
;
Arundhati Dev Borman
;
Andrew R. Webster
;
Graham E. Holder
;
Anthony G. Robson
, et al.
소스
JAMA ophthalmology
. 132(11)
Full Text (AMA)
Open Access (OpenAIRE)
Scopus
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17 . Academic Journal
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1
저자
by
Arno, Gavin
;
Hull, Sarah
;
Carss, Keren
;
Dev-Borman, Arundhati
;
Chakarova, Christina
, et al.
소스
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
; SEP 2016, 57 11, p4806-p4813, 8p.
Scopus
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17 .
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease
저자
by
Phillip Gorden
;
Yali Xue
;
David Russel-Jones
;
Rebecca J. Brown
;
Arundhati Dev Borman
, et al.
소스
Proceedings of the National Academy of Sciences of the United States of America
. 111(24)
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17 .
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity
저자
by
Andrew R. Webster
;
Naushin Waseem
;
Laura R. Pearce
;
Robert H. Henderson
;
Kerstin Nagel-Wolfrum
, et al.
소스
Human Mutation
Open Access (OpenAIRE)
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17 .
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy
저자
by
Hoai Viet Tran
;
Jill A. Cowing
;
Robert H. Henderson
;
Andrew R. Webster
;
Michael E. Cheetham
, et al.
소스
PLoS ONE
PLoS ONE, Vol 7, Iss 3, p e32330 (2012)
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17 .
NMNAT1 mutations cause Leber congenital amaurosis
저자
by
Zoe Fonseca-Kelly
;
Shomi S. Bhattacharya
;
Rachna Shukla
;
Juan C. Perin
;
Anthony T. Moore
, et al.
소스
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature genetics
Open Access (OpenAIRE)
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17 .
Childhood-onset autosomal recessive bestrophinopathy
저자
by
Anthony T. Moore
;
Alice E. Davidson
;
Forbes D C Manson
;
Graeme C.M. Black
;
Andrew R. Webster
, et al.
소스
Archives of ophthalmology (Chicago, Ill. : 1960)
. 129(8)
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17 .
RDH12 retinopathy: novel mutations and phenotypic description
저자
by
Donna S, Mackay
;
Arundhati, Dev Borman
;
Phillip, Moradi
;
Robert H, Henderson
;
Zheng, Li
, et al.
소스
Molecular Vision
Open Access (OpenAIRE)
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17 .
RDH12 retinopathy: novel mutations and phenotypic description
저자
by
Mackay, Donna S
;
Dev Borman, Arundhati
;
Moradi, Phillip
;
Henderson, Robert H
;
Li, Zheng
, et al.
소스
Open Access (OpenAIRE)
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17 .
A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls
저자
by
Sophie Devery
;
Genevieve A. Wright
;
Anthony T. Moore
;
Andrew R. Webster
;
Donna S. Mackay
, et al.
소스
Investigative ophthalmologyvisual science
. 52(3)
Open Access (OpenAIRE)
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