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Journal Articles (2)

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Investigative Ophthalmology & Visual Science (1)
Translational Vision Science & Technology (1)

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Articles (1)
Biochemistry and Molecular Biology (1)

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Genetics (2)
Biochemistry and Molecular Biology (1)
Eye Anatomy and Disorders (1)
Glaucoma (1)
Translational Research (1)

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cohort studies (1)
congenital abnormality (1)
glaucoma (1)
glaucoma, congenital (1)
mutation (1)
screening (1)
whole exome sequencing (1)

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Articles June 2020

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

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Elena Lang; Samuel Koller; Luzy Bähr; Marc Töteberg-Harms; David Atac; Françoise Roulez; Angela Bahr; Katharina Steindl; Silke Feil; Wolfgang Berger; Christina Gerth-Kahlert
TAGS: cohort studies, glaucoma, congenital, whole exome sequencing, glaucoma
Trans. Vis. Sci. Tech.. 2020; 9(7):47. https://doi.org/10.1167/tvst.9.7.47

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Biochemistry and Molecular Biology January 2011

Expanding the Spectrum of FOXC1 and PITX2 Mutations and Copy Number Changes in Patients with Anterior Segment Malformations

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Barbara D'haene; Françoise Meire; Ilse Claerhout; Hester Y. Kroes; Astrid Plomp; Yvonne H. Arens; Thomy de Ravel; Ingele Casteels; Sarah De Jaegere; Sally Hooghe; Wim Wuyts; Jenneke van den Ende; Françoise Roulez; Hermine E. Veenstra-Knol; Rogier A. Oldenburg; Jacques Giltay; Johanna B. G. M. Verheij; Jan-Tjeerd de Faber; Björn Menten; Anne De Paepe; Philippe Kestelyn; Bart P. Leroy; Elfride De Baere
TAGS: congenital abnormality, mutation, screening
Invest. Ophthalmol. Vis. Sci.. 2011; 52(1):324-333. https://doi.org/10.1167/iovs.10-5309

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Online ISSN: 2164-2591

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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