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Date 2012 Author/Creator Callier, Patrick

1. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. Issue 6 (12th June 2012)

Authors:
Thevenon, Julien; Lopez, Estelle; Keren, Boris; Heron, Delphine; Mignot, Cyril; Altuzarra, Cecilia; Béri-Dexheimer, Mylène; Bonnet, Céline; Magnin, Eloi; Burglen, Lydie; Minot, Delphine; Vigneron, Jacqueline; Morle, Sophie; Anheim, Mathieu; Charles, Perrine; Brice, Alexis; Gallagher, Louise; Amie...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 6(2012)
Page Start:
400
Record Type:
Journal Article
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2. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. Issue 12 (25th October 2012)

Authors:
Courcet, Jean-Benoît; Faivre, Laurence; Malzac, Perrine; Masurel-Paulet, Alice; Lopez, Estelle; Callier, Patrick; Lambert, Laetitia; Lemesle, Martine; Thevenon, Julien; Gigot, Nadège; Duplomb, Laurence; Ragon, Clémence; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Huet, Frédéric; Philippe, Christo...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 12(2012)
Page Start:
731
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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