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P Saugier

Showing results (11-20 of 27) with videos related to

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Journal of Medical Genetics|February 4, 2005
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformationsC Le Caignec, M Boceno, P Saugier-Veber, et al.
American Journal of Human Genetics|June 1, 1993
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)P Saugier-Veber, V Abadie, A Moncla, et al.
American Journal of Medical Genetics|May 9, 2001
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counselingV Drouin-Garraud, M Belgrand, S Grünewald, et al.
Clinical Neuropathology|November 16, 2010
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosisD Wallon, L Guyant-Maréchal, A Laquerrière, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 14, 2011
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patientsS Ouesleti, V Brunel, H Ben Turkia, et al.
Prenatal Diagnosis|August 1, 1995
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemiaB Segues, J M Rozet, B Gilbert, et al.
Human Molecular Genetics|September 16, 1998
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonismC Dumanchin, A Camuzat, D Campion, et al.
Hormone Research in Paediatrics|May 11, 2010
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapiesE Proust-Lemoine, P Saugier-Véber, D Lefranc, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosisC Thauvin-Robinet, S Drunat, P Saugier Veber, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
Journal of Medical Genetics|February 4, 2005
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformationsC Le Caignec, M Boceno, P Saugier-Veber, et al.
American Journal of Human Genetics|June 1, 1993
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)P Saugier-Veber, V Abadie, A Moncla, et al.
American Journal of Medical Genetics|May 9, 2001
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counselingV Drouin-Garraud, M Belgrand, S Grünewald, et al.
Clinical Neuropathology|November 16, 2010
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosisD Wallon, L Guyant-Maréchal, A Laquerrière, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 14, 2011
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patientsS Ouesleti, V Brunel, H Ben Turkia, et al.
Prenatal Diagnosis|August 1, 1995
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemiaB Segues, J M Rozet, B Gilbert, et al.
Human Molecular Genetics|September 16, 1998
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonismC Dumanchin, A Camuzat, D Campion, et al.
Hormone Research in Paediatrics|May 11, 2010
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapiesE Proust-Lemoine, P Saugier-Véber, D Lefranc, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosisC Thauvin-Robinet, S Drunat, P Saugier Veber, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Pageof 3