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Author/Creator Van Cauwenbergh, Caroline

2. CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up. Issue 5 (12th February 2021)

Authors:
Talib, Mays; Van Cauwenbergh, Caroline; De Zaeytijd, Julie; Van Wynsberghe, David; De Baere, Elfride; Boon, Camiel J F; Leroy, Bart Peter
Journal:
British journal of ophthalmology
Issue:
Volume 106:Issue 5(2022)
Page Start:
696
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1. Issue 12 (1st October 2015)

Authors:
Coppieters, Frauke; Todeschini, Anne Laure; Fujimaki, Takuro; Baert, Annelot; De Bruyne, Marieke; Van Cauwenbergh, Caroline; Verdin, Hannah; Bauwens, Miriam; Ongenaert, Maté; Kondo, Mineo; Meire, Françoise; Murakami, Akira; Veitia, Reiner A.; Leroy, Bart P.; De Baere, Elfride
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1188
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene. (3rd September 2021)

Authors:
De Zaeytijd, Julie; Coppieters, Frauke; De Bruyne, Marieke; Van Royen, Jasper; Roels, Dimitri; Six, Rani; Van Cauwenbergh, Caroline; De Baere, Elfride; Leroy, Bart P.
Journal:
Ophthalmic genetics
Issue:
Volume 42:Number 5(2021)
Page Start:
521
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond. Issue 5 (6th February 2019)

Authors:
Naessens, Sarah; De Zaeytijd, Julie; Syx, Delfien; Vandenbroucke, Roosmarijn E.; Smeets, Frédéric; Van Cauwenbergh, Caroline; Leroy, Bart P.; Peelman, Frank; Coppieters, Frauke
Journal:
Human mutation
Issue:
Volume 40:Issue 5(2019)
Page Start:
539
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗