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Author/Creator Audo, I.

2. ARL2BP mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant. Issue 1 (6th February 2017)

Authors:
Audo, I.; El Shamieh, S.; Méjécase, C.; Michiels, C.; Demontant, V.; Antonio, A.; Condroyer, C.; Boyard, F.; Letexier, M.; Saraiva, J.‐P.; Blanchard, S.; Mohand‐Saïd, S.; Sahel, J.‐A.; Zeitz, C.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 1(2017)
Page Start:
109
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Deciphering the natural history of SCA7 in children. (23rd July 2020)

Authors:
Bah, M. G.; Rodriguez, D.; Cazeneuve, C.; Mochel, F.; Devos, D.; Suppiej, A.; Roubertie, A.; Meunier, I.; Gitiaux, C.; Curie, A.; Klapczynski, F.; Allani‐Essid, N.; Carneiro, M.; Van Minkelen, R.; Kievit, A.; Fluss, J.; Leheup, B.; Ratbi, L.; Héron, D.; Gras, D.
Journal:
European journal of neurology
Issue:
Volume 27:Number 11(2020)
Page Start:
2267
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Next‐generation sequencing confirms the implication of SLC24A1 in autosomal‐recessive congenital stationary night blindness. Issue 6 (4th March 2016)

Authors:
Neuillé, M.; Malaichamy, S.; Vadalà, M.; Michiels, C.; Condroyer, C.; Sachidanandam, R.; Srilekha, S.; Arokiasamy, T.; Letexier, M.; Démontant, V.; Sahel, J.‐A.; Sen, P.; Audo, I.; Soumittra, N.; Zeitz, C.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 6(2016)
Page Start:
690
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗