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C Moraine

Showing results (71-80 of 94) with videos related to

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Journal of Medical Genetics|February 9, 2000
First description of germline mosaicism in familial hypertrophic cardiomyopathyJ F Forissier, P Richard, S Briault, et al.
American Journal of Medical Genetics|February 24, 2001
Cosegregation of T108A Elk-1 with mental retardationA Schröer, M P Scheer, S Zacharias, et al.
Journal of Medical Genetics|October 21, 1999
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1L Villard, S Briault, A M Lossi, et al.
Neurology|October 14, 2005
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni, Y Saillour, M Nagara, et al.
Neurogenetics|October 20, 2005
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosisK Poirier, D Lacombe, B Gilbert-Dussardier, et al.
Clinical Genetics|January 7, 2011
Twenty-five novel mutations including duplications in the ATP7A geneM-P Moizard, N Ronce, S Blesson, et al.
Prenatal Diagnosis|June 22, 2000
Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann featuresS Fert-Ferrer, A Guichet, J Tantau, et al.
American Journal of Medical Genetics|November 15, 2000
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?S Briault, L Villard, U Rogner, 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.
Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, et al.
Pageof 10

Showing results (71-80 of 94) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|February 9, 2000
First description of germline mosaicism in familial hypertrophic cardiomyopathyJ F Forissier, P Richard, S Briault, et al.
American Journal of Medical Genetics|February 24, 2001
Cosegregation of T108A Elk-1 with mental retardationA Schröer, M P Scheer, S Zacharias, et al.
Journal of Medical Genetics|October 21, 1999
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1L Villard, S Briault, A M Lossi, et al.
Neurology|October 14, 2005
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni, Y Saillour, M Nagara, et al.
Neurogenetics|October 20, 2005
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosisK Poirier, D Lacombe, B Gilbert-Dussardier, et al.
Clinical Genetics|January 7, 2011
Twenty-five novel mutations including duplications in the ATP7A geneM-P Moizard, N Ronce, S Blesson, et al.
Prenatal Diagnosis|June 22, 2000
Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann featuresS Fert-Ferrer, A Guichet, J Tantau, et al.
American Journal of Medical Genetics|November 15, 2000
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?S Briault, L Villard, U Rogner, 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.
Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, et al.
Pageof 10