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Genes|January 9, 2021
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven GenesPatricia Haug, Samuel Koller, Jordi Maggi, et al.Translational Vision Science & Technology|August 25, 2020
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals <i>CYP1B1</i> and <i>FOXC1</i> Variants as Most Frequent CausesElena Lang, Samuel Koller, Luzy Bähr, et al.Human Molecular Genetics|November 8, 2019
Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasiaDavid Atac, Samuel Koller, James V M Hanson, et al.Ophthalmologica. Journal International D'Ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde|April 1, 2025
Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable PhenotypeNastasia Foa, Maximilian Pfau, Georg Ansari, et al.Clinical Genetics|November 17, 2025
The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular DiseaseKatie M Williams, Wolfgang Berger, Samuel Koller, et al.Journal of Personalized Medicine|June 27, 2024
<i>SwissGenVar</i>: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in SwitzerlandDennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, et al.Acta Ophthalmologica|September 30, 2020
Genotype-phenotype spectrum in isolated and syndromic nanophthalmosElena Lang, Samuel Koller, David Atac, et al.JAMA Ophthalmology|May 20, 2021
Genetic Analysis in a Swiss Cohort of Bilateral Congenital CataractDelia Rechsteiner, Lydia Issler, Samuel Koller, et al.Investigative Ophthalmology & Visual Science|August 2, 2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel MutationsChristina Gerth-Kahlert, Amit Tiwari, James V M Hanson, et al.NPJ Genomic Medicine|April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypesRyan E Schmidt, Amy E Pohodich, David Birch, et al.Pageof 3