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V Des Portes

Showing results (41-50 of 59) with videos related to

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Neurology|October 14, 2005
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni, Y Saillour, M Nagara, et al.
American Journal of Medical Genetics|July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pterV des Portes, L Bachner, T Brüls, et al.
European Journal of Human Genetics : EJHG|March 1, 1997
Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardationT Bienvenu, H Der-Sarkissian, P Billuart, et al.
Neurology|November 15, 2006
High frequency of creatine deficiency syndromes in patients with unexplained mental retardationL Lion-François, D Cheillan, G Pitelet, et al.
Cell|March 7, 1998
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndromeV des Portes, J M Pinard, P Billuart, et al.
American Journal of Medical Genetics|July 9, 1999
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortiumV des Portes, C Beldjord, J Chelly, et al.
Clinical Genetics|October 19, 2010
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated malesD Germanaud, M Rossi, G Bussy, et al.
Journal of Medical Genetics|July 10, 2007
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangliaY Saillour, G Zanni, V Des Portes, et al.
Human Molecular Genetics|June 9, 1998
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)V des Portes, F Francis, J M Pinard, et al.
Neuroimage|August 10, 2014
Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrificationD Germanaud, J Lefèvre, C Fischer, et al.
Pageof 6

Showing results (41-50 of 59) with videos related to

Sort By:
Pageof 6
Neurology|October 14, 2005
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni, Y Saillour, M Nagara, et al.
American Journal of Medical Genetics|July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pterV des Portes, L Bachner, T Brüls, et al.
European Journal of Human Genetics : EJHG|March 1, 1997
Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardationT Bienvenu, H Der-Sarkissian, P Billuart, et al.
Neurology|November 15, 2006
High frequency of creatine deficiency syndromes in patients with unexplained mental retardationL Lion-François, D Cheillan, G Pitelet, et al.
Cell|March 7, 1998
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndromeV des Portes, J M Pinard, P Billuart, et al.
American Journal of Medical Genetics|July 9, 1999
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortiumV des Portes, C Beldjord, J Chelly, et al.
Clinical Genetics|October 19, 2010
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated malesD Germanaud, M Rossi, G Bussy, et al.
Journal of Medical Genetics|July 10, 2007
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangliaY Saillour, G Zanni, V Des Portes, et al.
Human Molecular Genetics|June 9, 1998
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)V des Portes, F Francis, J M Pinard, et al.
Neuroimage|August 10, 2014
Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrificationD Germanaud, J Lefèvre, C Fischer, et al.
Pageof 6