A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

by Elena Buena-Atienza, Fadi Nasser, Susanne Kohl, Bernd Wissinger
Published 2018-06-01

Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa

by Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Published 2021-02-01