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A Munnich

Showing results (151-160 of 573) with videos related to

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Journal Francais D'Ophtalmologie|January 1, 1992
[Leber's optic neuropathy: new diagnostic prospects]V Pagot, F Malecaze, A Rötig, et al.
American Journal of Human Genetics|April 1, 1989
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiencyS Lyonnet, C Caillaud, F Rey, et al.
The Journal of Clinical Investigation|March 1, 1985
Dietary and hormonal regulation of aldolase B gene expressionA Munnich, C Besmond, S Darquy, et al.
American Journal of Ophthalmology|January 1, 1996
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin geneE Souied, G Soubrane, P Benlian, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 1, 1997
[Fibroblast growth factor receptors and hereditary abnormalities of bone growth]J Bonaventure, F Rousseau, L Legeai-Mallet, et al.
Heart (British Cardiac Society)|March 22, 2002
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxiaA O Hausse, Y Aggoun, D Bonnet, et al.
Nucleic Acids Research|September 25, 1990
A PstI polymorphism at the D5S39 locusS Abdelhak, J Melki, M F Bachelot, et al.
The Journal of Clinical Investigation|March 1, 1993
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)A Rötig, V Cormier, P Chatelain, et al.
European Journal of Pediatrics|July 17, 1998
Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mappingM Collinet, M Berthelon, P Bénit, et al.
Journal of Medical Genetics|May 23, 2001
Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR methodP Saugier-Veber, N Drouot, S Lefebvre, et al.
Pageof 58

Showing results (151-160 of 573) with videos related to

Sort By:
Pageof 58
Journal Francais D'Ophtalmologie|January 1, 1992
[Leber's optic neuropathy: new diagnostic prospects]V Pagot, F Malecaze, A Rötig, et al.
American Journal of Human Genetics|April 1, 1989
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiencyS Lyonnet, C Caillaud, F Rey, et al.
The Journal of Clinical Investigation|March 1, 1985
Dietary and hormonal regulation of aldolase B gene expressionA Munnich, C Besmond, S Darquy, et al.
American Journal of Ophthalmology|January 1, 1996
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin geneE Souied, G Soubrane, P Benlian, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 1, 1997
[Fibroblast growth factor receptors and hereditary abnormalities of bone growth]J Bonaventure, F Rousseau, L Legeai-Mallet, et al.
Heart (British Cardiac Society)|March 22, 2002
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxiaA O Hausse, Y Aggoun, D Bonnet, et al.
Nucleic Acids Research|September 25, 1990
A PstI polymorphism at the D5S39 locusS Abdelhak, J Melki, M F Bachelot, et al.
The Journal of Clinical Investigation|March 1, 1993
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)A Rötig, V Cormier, P Chatelain, et al.
European Journal of Pediatrics|July 17, 1998
Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mappingM Collinet, M Berthelon, P Bénit, et al.
Journal of Medical Genetics|May 23, 2001
Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR methodP Saugier-Veber, N Drouot, S Lefebvre, et al.
Pageof 58