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Author/Creator Devos, Aurore

1. Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease. Issue 10 (18th June 2019)

Authors:
Khan, Mubeen; Cornelis, Stéphanie S.; Khan, Muhammad Imran; Elmelik, Duaa; Manders, Eline; Bakker, Sem; Derks, Ronny; Neveling, Kornelia; van de Vorst, Maartje; Gilissen, Christian; Meunier, Isabelle; Defoort, Sabine; Puech, Bernard; Devos, Aurore; Schulz, Heidi L.; Stöhr, Heidi; Grassmann, Felix...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1749
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. Issue 10 (11th July 2013)

Authors:
Bannwarth, Sylvie; Procaccio, Vincent; Lebre, Anne Sophie; Jardel, Claude; Chaussenot, Annabelle; Hoarau, Claire; Maoulida, Hassani; Charrier, Nathanaël; Gai, Xiaowu; Xie, Hongbo M; Ferre, Marc; Fragaki, Konstantina; Hardy, Gaëlle; Mousson de Camaret, Bénédicte; Marlin, Sandrine; Dhaenens, Claire...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 10(2013)
Page Start:
704
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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