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Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses

Isabelle Roux , Suzanne Hosie , Stuart Johnson , Amel Bahloul , Nadège Cayet , et al.
Human Molecular Genetics, 2009, 18 (23), pp.4615-4628. ⟨10.1093/hmg/ddp429⟩
Journal articles hal-04159601v1

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

Sylvie Jaillard , Séverine Drunat , Claude Bendavid , Azzedine Aboura , Amandine Etcheverry , et al.
European Journal of Medical Genetics, 2010, 53 (2), pp.66-75. ⟨10.1016/j.ejmg.2009.10.002⟩
Journal articles istex inserm-00434932v1

Twelve new patients with 13q deletion syndrome: Genotype-phenotype analyses in progress.

Chloé Quélin , Claude Bendavid , Christèle Dubourg , Céline de La Rochebrochard , Josette Lucas , et al.
European Journal of Medical Genetics, 2009, 52 (1), pp.41-6. ⟨10.1016/j.ejmg.2008.10.002⟩
Journal articles istex inserm-00353241v1

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Sandrine Passemard , Luigi Titomanlio , Monique Elmaleh , Alexandra Afenjar , Jean-Luc Alessandri , et al.
Neurology, 2009, 73 (12), pp.962-9. ⟨10.1212/WNL.0b013e3181b8799a⟩
Journal articles inserm-00420406v1

Delineation of 15q13.3 microdeletions.

Alice Masurel-Paulet , Joris Andrieux , Patrick Callier , Jean-Marie Cuisset , Cédric Le Caignec , et al.
Clinical Genetics, 2010, 78 (2), pp.149-61. ⟨10.1111/j.1399-0004.2010.01374.x⟩
Journal articles istex inserm-00466147v1

Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.

Amel Bahloul , Marie-Christine Simmler , Vincent Michel , Michel Leibovici , Isabelle Perfettini , et al.
EMBO Molecular Medicine, 2009, 1 (2), pp.125-38. ⟨10.1002/emmm.200900015⟩
Journal articles hal-00477439v1

5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.

Sylvie Jaillard , Joris Andrieux , Ghislaine Plessis , Ana Cv Krepischi , Josette Lucas , et al.
American Journal of Medical Genetics Part A, 2011, 155A (4), pp.725-31. ⟨10.1002/ajmg.a.33758⟩
Journal articles istex inserm-00595096v1