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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 deficiency
S Lyonnet, C Caillaud, F Rey, et al.
The Journal of Clinical Investigation
|
March 1, 1985
Dietary and hormonal regulation of aldolase B gene expression
A 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 gene
E 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 ataxia
A O Hausse, Y Aggoun, D Bonnet, et al.
Nucleic Acids Research
|
September 25, 1990
A PstI polymorphism at the D5S39 locus
S 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 mapping
M 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 method
P Saugier-Veber, N Drouot, S Lefebvre, et al.
Page
of 58
Search research articles
Search
Showing results (151-160 of 573) with videos related to
Sort By:
Page
of 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 deficiency
S Lyonnet, C Caillaud, F Rey, et al.
The Journal of Clinical Investigation
|
March 1, 1985
Dietary and hormonal regulation of aldolase B gene expression
A 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 gene
E 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 ataxia
A O Hausse, Y Aggoun, D Bonnet, et al.
Nucleic Acids Research
|
September 25, 1990
A PstI polymorphism at the D5S39 locus
S 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 mapping
M 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 method
P Saugier-Veber, N Drouot, S Lefebvre, et al.
Page
of 58