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Journal Articles (3)

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Investigative Ophthalmology & Visual Science (3)

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Genetics (3)

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Genetics (3)

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family (3)
genes (3)
mutation (2)
aicardi syndrome (1)
autosomal recessive inheritance (1)
bioinformatics (1)
corpus callosum agenesis (1)
de novo mutation (1)
dideoxy chain termination dna sequencing (1)
dna (1)

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Genetics September 2018

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

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Zahid Latif; Imen Chakchouk; Isabelle Schrauwen; Kwanghyuk Lee; Regie Lyn P. Santos-Cortez; Izoduwa Abbe; Anushree Acharya; Afeefa Jarral; Imran Ali; Ehsan Ullah; Muhammad Nasim Khan; Ghazanfar Ali; Tufail Hussain Tahir; Michael J. Bamshad; Deborah A. Nickerson; Wasim Ahmad; Muhammad Ansar; Suzanne M. Leal
TAGS: family, genes, genetic linkage analysis, homozygote, retinitis pigmentosa, dideoxy chain termination dna sequencing, dna, bioinformatics, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4552-4557. doi: https://doi.org/10.1167/iovs.18-23849

Genetics June 2015

A De Novo Mutation in TEAD1 Causes Non–X-Linked Aicardi Syndrome

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Isabelle Schrauwen; Szabolcs Szelinger; Ashley L. Siniard; Jason J. Corneveaux; Ahmet Kurdoglu; Ryan Richholt; Matt De Both; Ivana Malenica; Shanker Swaminathan; Sampathkumar Rangasamy; Neil Kulkarni; Saunder Bernes; Jeffrey Buchhalter; Keri Ramsey; David W. Craig; Vinodh Narayanan; Matthew J. Huentelman
TAGS: aicardi syndrome, de novo mutation, genes, mutation, rna, x-linked inheritance, family, x inactivation, gene expression profiling, exome
Invest. Ophthalmol. Vis. Sci.. 2015; 56(6):3896-3904. doi: https://doi.org/10.1167/iovs.14-16261

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Genetics June 2011

Autosomal Recessive Stickler Syndrome in Two Families Is Caused by Mutations in the COL9A1 Gene

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Konstantinos Nikopoulos; Isabelle Schrauwen; Marleen Simon; Rob W. J. Collin; Marc Veckeneer; Kathelijn Keymolen; Guy Van Camp; Frans P. M. Cremers; L. Ingeborgh van den Born
TAGS: autosomal recessive inheritance, family, genes, mutation, stickler syndrome
Invest. Ophthalmol. Vis. Sci.. 2011; 52(7):4774-4779. doi: https://doi.org/10.1167/iovs.10-7128

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Online ISSN: 1552-5783

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

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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