Search

Author/Creator Kühlewein, Laura

1. A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect. Issue 13 (22nd April 2021)

Authors:
Kohl, Susanne; Llavona, Pablo; Sauer, Alexandra; Reuter, Peggy; Weisschuh, Nicole; Kempf, Melanie; Dehmelt, Florian Alexander; Arrenberg, Aristides B; Sliesoraityte, Ieva; Zrenner, Eberhart; van Schooneveld, Mary J; Rudolph, Günther; Kühlewein, Laura; Wissinger, Bernd
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 13(2021)
Page Start:
1218
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. CNGB1‐related rod‐cone dystrophy: A mutation review and update. Issue 6 (16th May 2021)

Authors:
Nassisi, Marco; Smirnov, Vasily M.; Solis Hernandez, Cyntia; Mohand‐Saïd, Saddek; Condroyer, Christel; Antonio, Aline; Kühlewein, Laura; Kempf, Melanie; Kohl, Susanne; Wissinger, Bernd; Nasser, Fadi; Ragi, Sara D.; Wang, Nan‐Kai; Sparrow, Janet R.; Greenstein, Vivienne C.; Michalakis, Stylianos; ...
Journal:
Human mutation
Issue:
Volume 42:Issue 6(2021)
Page Start:
641
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗