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Author/Creator Ott, Elisabeth

1. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Issue 12 (1st November 2020)

Authors:
Epting, Daniel; Senaratne, Lokuliyange D. S.; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika; Larsen, Selma M.; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari‐Anne M.; Crowley, Suzanne; Sikiric, Alma; Barøy, Tuva; Käsmann‐Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine...
Journal:
Human mutation
Issue:
Volume 41:Issue 12(2020)
Page Start:
2179
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Issue 14 (6th February 2022)

Authors:
Epting, Daniel; Decker, Eva; Ott, Elisabeth; Eisenberger, Tobias; Bader, Ingrid; Bachmann, Nadine; Bergmann, Carsten
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 14(2022)
Page Start:
2295
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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