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C Marsac

Showing results (81-90 of 91) with videos related to

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Archives Francaises De Pediatrie|February 1, 1981
[Multiple biotin-dependent carboxylase deficiencies (author's transl)]A Munnich, J M Saudubray, H Ogier, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?D Rabier, C Diry, A Rotig, et al.
The Journal of Biological Chemistry|March 30, 2001
New splicing-site mutations in the SURF1 gene in Leigh syndrome patientsM O Pequignot, I Desguerre, R Dey, et al.
Molecular Genetics and Metabolism|September 15, 2011
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 proteinA Imbard, A Boutron, C Vequaud, et al.
Human Mutation|April 11, 2001
Mutation analysis of the tyrosinase gene in oculocutaneous albinismO Camand, D Marchant, S Boutboul, et al.
Human Mutation|January 1, 1996
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiencyW Lissens, L De Meirleir, S Seneca, et al.
Human Genetics|June 1, 1997
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiencyC Marsac, C Benelli, I Desguerre, et al.
Ophthalmic Genetics|September 27, 2002
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophyD Marchant, K Gogat, P Dureau, et al.
Journal of Medical Genetics|February 9, 2007
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophyD Marchant, K Yu, K Bigot, et al.
Human Mutation|March 10, 2001
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophyD Marchant, K Gogat, S Boutboul, et al.
Pageof 10

Showing results (81-90 of 91) with videos related to

Sort By:
Pageof 10
Archives Francaises De Pediatrie|February 1, 1981
[Multiple biotin-dependent carboxylase deficiencies (author's transl)]A Munnich, J M Saudubray, H Ogier, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?D Rabier, C Diry, A Rotig, et al.
The Journal of Biological Chemistry|March 30, 2001
New splicing-site mutations in the SURF1 gene in Leigh syndrome patientsM O Pequignot, I Desguerre, R Dey, et al.
Molecular Genetics and Metabolism|September 15, 2011
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 proteinA Imbard, A Boutron, C Vequaud, et al.
Human Mutation|April 11, 2001
Mutation analysis of the tyrosinase gene in oculocutaneous albinismO Camand, D Marchant, S Boutboul, et al.
Human Mutation|January 1, 1996
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiencyW Lissens, L De Meirleir, S Seneca, et al.
Human Genetics|June 1, 1997
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiencyC Marsac, C Benelli, I Desguerre, et al.
Ophthalmic Genetics|September 27, 2002
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophyD Marchant, K Gogat, P Dureau, et al.
Journal of Medical Genetics|February 9, 2007
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophyD Marchant, K Yu, K Bigot, et al.
Human Mutation|March 10, 2001
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophyD Marchant, K Gogat, S Boutboul, et al.
Pageof 10