van der Ven, A. ., Kobbe, B. ., Kohl, S. ., Shril, S. ., Pogoda, H. ., Imhof, T. ., … Hildebrandt, F. . A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PloS One, 13(1), e0191224. https://doi.org/10.1371/journal.pone.0191224 (Original work published 2018)
S Kohl
First name:
S
Last name:
Kohl
Sumaroka, A. ., Garafalo, A. ., Cideciyan, A. ., Charng, J. ., Roman, A. ., Choi, W. ., … Jacobson, S. . (2018). Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations. Investigative Ophthalmology & Visual Science, 59(15), 5762-5772. https://doi.org/10.1167/iovs.18-25280 (Original work published 2018)