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M T Zabot

Showing results (31-40 of 54) with videos related to

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Nature Genetics|September 10, 1998
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiencyJ Reiss, N Cohen, C Dorche, et al.
Acta Dermato-Venereologica|May 6, 1999
Excision repair defect in Rothmund Thomson syndromeF Vasseur, E Delaporte, M T Zabot, et al.
Human Genetics|April 4, 2000
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patientsA Poyau, K Buchet, M F Bouzidi, et al.
Human Mutation|January 1, 1997
Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patientsB Aral, M Coudé, J London, et al.
Pediatrie|December 1, 1984
[Cysteamine in the treatment of cystinosis in children. In vitro and in vivo studies]J J Louis, P Guibaud, R Dumoulin, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onsetC Vianey-Saban, N Stremler, O Paut, et al.
European Journal of Pediatrics|April 1, 1993
Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemiaC Vianey-Saban, B Mousson, C Bertrand, et al.
Pediatric Dermatology|March 18, 2000
Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotypeZ Urbán, S Peyrol, H Plauchu, et al.
Pediatrie|January 1, 1992
[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia]C Elleau, F Parrot-Roulaud, Y Perel, et al.
Leukemia|October 24, 2008
Another pedigree with familial acute myeloid leukemia and germline CEBPA mutationA Renneville, V Mialou, N Philippe, et al.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
Nature Genetics|September 10, 1998
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiencyJ Reiss, N Cohen, C Dorche, et al.
Acta Dermato-Venereologica|May 6, 1999
Excision repair defect in Rothmund Thomson syndromeF Vasseur, E Delaporte, M T Zabot, et al.
Human Genetics|April 4, 2000
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patientsA Poyau, K Buchet, M F Bouzidi, et al.
Human Mutation|January 1, 1997
Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patientsB Aral, M Coudé, J London, et al.
Pediatrie|December 1, 1984
[Cysteamine in the treatment of cystinosis in children. In vitro and in vivo studies]J J Louis, P Guibaud, R Dumoulin, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onsetC Vianey-Saban, N Stremler, O Paut, et al.
European Journal of Pediatrics|April 1, 1993
Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemiaC Vianey-Saban, B Mousson, C Bertrand, et al.
Pediatric Dermatology|March 18, 2000
Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotypeZ Urbán, S Peyrol, H Plauchu, et al.
Pediatrie|January 1, 1992
[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia]C Elleau, F Parrot-Roulaud, Y Perel, et al.
Leukemia|October 24, 2008
Another pedigree with familial acute myeloid leukemia and germline CEBPA mutationA Renneville, V Mialou, N Philippe, et al.
Pageof 6