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Nature Genetics
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October 1, 1993
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
J Hazan, C Lamy, J Melki, et al.
American Journal of Human Genetics
|
April 1, 1991
Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy
V Cormier, A Rotig, M Tardieu, et al.
The Journal of Biological Chemistry
|
May 28, 1998
Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia
L Legeai-Mallet, C Benoist-Lasselin, A L Delezoide, et al.
Bulletin Des Societes D'Ophtalmologie De France
|
October 1, 1988
[Detection of genetic carriers and antenatal diagnosis of juvenile retinoschisis by familial analysis in molecular biology]
J Kaplan, A Pelet, A Munnich, et al.
Archives Francaises De Pediatrie
|
October 1, 1985
[DNA and Duchenne de Boulogne myopathy]
J Frézal, J Kaplan, A Munnich, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 14, 1984
Abnormal galactoside excretion in urine of a patient with early myoclonic epileptic encephalopathy
J C Michalski, S Bouquelet, J Montreuil, et al.
Human Mutation
|
October 26, 1999
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations
P Bénit, A Kara-Mostefa, S Hadj-Rabia, et al.
American Journal of Medical Genetics
|
May 30, 1998
Segregation analysis in nonsyndromic holoprosencephaly
S Odent, B Le Marec, A Munnich, et al.
Pediatric Research
|
May 1, 1982
Cell-free translation of messenger RNAs from human muscle biopsies: a miniaturized tool for investigation of neuromuscular diseases
A Munnich, D Daegelen, C Besmond, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 1, 1982
Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts
M Zamboni, M Gaudry, A Marquet, et al.
Page
of 58
Search research articles
Search
Showing results (101-110 of 573) with videos related to
Sort By:
Page
of 58
Nature Genetics
|
October 1, 1993
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
J Hazan, C Lamy, J Melki, et al.
American Journal of Human Genetics
|
April 1, 1991
Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy
V Cormier, A Rotig, M Tardieu, et al.
The Journal of Biological Chemistry
|
May 28, 1998
Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia
L Legeai-Mallet, C Benoist-Lasselin, A L Delezoide, et al.
Bulletin Des Societes D'Ophtalmologie De France
|
October 1, 1988
[Detection of genetic carriers and antenatal diagnosis of juvenile retinoschisis by familial analysis in molecular biology]
J Kaplan, A Pelet, A Munnich, et al.
Archives Francaises De Pediatrie
|
October 1, 1985
[DNA and Duchenne de Boulogne myopathy]
J Frézal, J Kaplan, A Munnich, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 14, 1984
Abnormal galactoside excretion in urine of a patient with early myoclonic epileptic encephalopathy
J C Michalski, S Bouquelet, J Montreuil, et al.
Human Mutation
|
October 26, 1999
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations
P Bénit, A Kara-Mostefa, S Hadj-Rabia, et al.
American Journal of Medical Genetics
|
May 30, 1998
Segregation analysis in nonsyndromic holoprosencephaly
S Odent, B Le Marec, A Munnich, et al.
Pediatric Research
|
May 1, 1982
Cell-free translation of messenger RNAs from human muscle biopsies: a miniaturized tool for investigation of neuromuscular diseases
A Munnich, D Daegelen, C Besmond, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 1, 1982
Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts
M Zamboni, M Gaudry, A Marquet, et al.
Page
of 58