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S Odent

Showing results (71-80 of 110) with videos related to

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Clinical Genetics|January 11, 2016
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencingC Mouden, C Dubourg, W Carré, et al.
Human Molecular Genetics|August 11, 1999
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephalyS Odent, T Atti-Bitach, M Blayau, et al.
Clinical Genetics|July 4, 2006
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndromeC Badens, C Lacoste, N Philip, et al.
Journal of Medical Genetics|November 13, 2007
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathyH Rosas-Vargas, N Bahi-Buisson, C Philippe, et al.
Journal of Medical Genetics|September 25, 2008
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?S Jaillard, C Dubourg, M Gérard-Blanluet, et al.
Journal of Medical Genetics|January 16, 1998
Features of DiGeorge syndrome and CHARGE association in five patientsP de Lonlay-Debeney, V Cormier-Daire, J Amiel, et al.
Journal of Medical Genetics|March 8, 2003
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyM Chol, S Lebon, P Bénit, et al.
The Journal of Clinical Endocrinology and Metabolism|April 30, 2010
Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humansM Lebrun, N Richard, G Abeguilé, et al.
Human Molecular Genetics|April 4, 2001
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombinationL Y Brown, S Odent, V David, et al.
Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.
Pageof 11

Showing results (71-80 of 110) with videos related to

Sort By:
Pageof 11
Clinical Genetics|January 11, 2016
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencingC Mouden, C Dubourg, W Carré, et al.
Human Molecular Genetics|August 11, 1999
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephalyS Odent, T Atti-Bitach, M Blayau, et al.
Clinical Genetics|July 4, 2006
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndromeC Badens, C Lacoste, N Philip, et al.
Journal of Medical Genetics|November 13, 2007
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathyH Rosas-Vargas, N Bahi-Buisson, C Philippe, et al.
Journal of Medical Genetics|September 25, 2008
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?S Jaillard, C Dubourg, M Gérard-Blanluet, et al.
Journal of Medical Genetics|January 16, 1998
Features of DiGeorge syndrome and CHARGE association in five patientsP de Lonlay-Debeney, V Cormier-Daire, J Amiel, et al.
Journal of Medical Genetics|March 8, 2003
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyM Chol, S Lebon, P Bénit, et al.
The Journal of Clinical Endocrinology and Metabolism|April 30, 2010
Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humansM Lebrun, N Richard, G Abeguilé, et al.
Human Molecular Genetics|April 4, 2001
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombinationL Y Brown, S Odent, V David, et al.
Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.
Pageof 11