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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
2019
63 citations
Journal Article
hybrid Open Access
Field-Weighted Citation Impact:
2.15
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder | Researchclopedia
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Genome Institute of Singapore
Alexis Jiaying Khng
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Genome Institute of Singapore
Iris H.I.M. Hollink
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Erasmus MC
Margaux A. Morrison
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University of Utah
Leah A. Owen
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University of Utah
Katherine Anderson
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Fargo VA Health Care System
Krista Kinard
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University of Utah
Rebecca Greenlees
·
Children's Medical Research Institute
Danica Novacic
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National Human Genome Research Institute
Sen Hou
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National Institutes of Health
Wadih M. Zein
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National Institutes of Health
George M. Rodgers
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Utah Department of Health
Albert T. Vitale
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University of Utah
Neena B. Haider
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Massachusetts Eye and Ear Infirmary
Axel M. Hillmer
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Genome Institute of Singapore
Pauline C. Ng
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Genome Institute of Singapore
Shankaracharya
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The University of Texas MD Anderson Cancer Center
Anson Cheng
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Children's Medical Research Institute
Linda Zheng
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Children's Medical Research Institute
Mark C. Gillies
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The University of Sydney
Marjon van Slegtenhorst
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Erasmus MC
P. Martin van Hagen
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Erasmus MC
Tom Missotten
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Rotterdam Eye Hospital
Gary L. Farley
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Fargo VA Health Care System
Michael Polo
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Fargo VA Health Care System
J. Jeffrey Malatack
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DuPont (United States)
Julie Curtin
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Children's Hospital at Westmead
Frank Martin
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Children's Hospital at Westmead
Susan Arbuckle
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Children's Hospital at Westmead
Stephen I. Alexander
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Children's Hospital at Westmead
Megan Chircop
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Children's Medical Research Institute
Sonia Dávila
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Genome Institute of Singapore
Kathleen B. Digre
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University of Utah
Robyn V. Jamieson
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The University of Sydney
Margaret M. DeAngelis
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University of Utah