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1 . Academic Journal
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
저자
by
Morad Ansari
;
Jacqueline Rainger
;
Isabel M Hanson
;
Kathleen A Williamson
;
Freddie Sharkey
, et al.
소스
PLoS ONE, Vol 11, Iss 4, p e0153757 (2016)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Study of Optimal Perimetric Testing in Children (OPTIC): Feasibility, Reliability and Repeatability of Perimetry in Children.
저자
by
Dipesh E Patel
;
Phillippa M Cumberland
;
Bronwen C Walters
;
Isabelle Russell-Eggitt
;
Jugnoo S Rahi
, et al.
소스
PLoS ONE, Vol 10, Iss 6, p e0130895 (2015)
Open Access (DOAJ)
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7 . Academic Journal
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
저자
by
Alice E Davidson
;
Sek-Shir Cheong
;
Pirro G Hysi
;
Cristina Venturini
;
Vincent Plagnol
, et al.
소스
PLoS ONE, Vol 9, Iss 8, p e104163 (2014)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
저자
by
Mei Hong Tan
;
Donna S Mackay
;
Jill Cowing
;
Hoai Viet Tran
;
Alexander J Smith
, et al.
소스
PLoS ONE, Vol 7, Iss 3, p e32330 (2012)
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7 . Academic Journal
Joubert syndrome: long-term follow-up.
저자
by
Peter R Hodgkins
;
Christopher M Harris
;
Fatima S Shawkat
;
Dorothy A Thompson
;
Kling Chong
, et al.
소스
Developmental Medicine & Child Neurology
. Oct2004, Vol. 46 Issue 10, p694-699. 6p.
Web of Science
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7 . Academic Journal
Chronic papilloedema due to intra-orbital langerhans cell histiocytosis.
저자
by
Klaus Werner
;
Jon Pritchard
;
Marjatta Lappi
;
Isabelle Russell-Eggitt
;
Mervi Taskinen
, et al.
소스
Medical & Pediatric Oncology; Dec2003, Vol. 41 Issue 6, p580, 4p
Scopus
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7 .
Congenital cataract associated with persistent fetal vasculature: findings from IoLunder2
저자
by
Ameenat Lola Solebo
;
Phillippa M. Cumberland
;
Jugnoo S Rahi
;
Isabelle Russell-Eggitt
.
소스
Eye
. 30:1204-1209
Open Access (OpenAIRE)
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6 .
Study of Optimal Perimetric Testing In Children (OPTIC)
저자
by
Phillippa M. Cumberland
;
Dipesh E Patel
;
Mario Cortina-Borja
;
Isabelle Russell-Eggitt
;
Jugnoo S Rahi
, et al.
소스
Ophthalmology
. 122:1711-1717
Full Text (Clinical Key)
Open Access (OpenAIRE)
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7 .
Risks and outcomes associated with primary intraocular lens implantation in children under 2 years of age: the IoLunder2 cohort study
저자
by
Phillippa M. Cumberland
;
Ameenat Lola Solebo
;
Isabelle Russell-Eggitt
;
Jugnoo S Rahi
.
소스
British Journal of Ophthalmology
. 99:1471-1476
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6 .
Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder
저자
by
Michele Cruwys
;
Ewa Raglan
;
Angela F. Brady
;
Peter Loshe
;
Kaukab Rajput
, et al.
소스
Clinical Dysmorphology
. 22:64-67
Full Text (LWW)
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