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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
January 1, 1996
[Mental retardation in fragile X syndrome]
J L Mandel, V Biancalana, M Cossée, et al.
Neurology
|
April 27, 2005
A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy
A Echaniz-Laguna, E Rousso, M Anheim, et al.
Human Genetics
|
September 16, 1998
Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor
C Zühlke, F Laccone, M Cossée, et al.
Revue Neurologique
|
June 1, 2005
[A clinical, neurophysiological and molecular study of 12 patients from 4 families with spinal and bulbar muscular atrophy]
A Echaniz-Laguna, E Rousso, M Anheim, et al.
Human Genetics
|
October 30, 1999
G130V, a common FRDA point mutation, appears to have arisen from a common founder
M B Delatycki, M Knight, M Koenig, et al.
Revue Neurologique
|
February 17, 2012
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene
F Bouquet, M Cossée, A Béhin, et al.
Revue Neurologique
|
March 25, 2008
[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male]
A Drouet, E Ollagnon-Roman, N Streichenberger, et al.
Pathologie-Biologie
|
May 13, 2006
Phenotype in X chromosome rearrangements: pitfalls of X inactivation study
C Schluth, M Cossée, F Girard-Lemaire, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 8, 1997
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations
M Cossée, M Schmitt, V Campuzano, et al.
Journal Francais D'Ophtalmologie
|
March 16, 2005
[Update on Bardet-Biedl syndrome]
H Dollfus, A Verloes, D Bonneau, et al.
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of 3
Search research articles
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Showing results (1-10 of 28) with videos related to
Sort By:
Page
of 3
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
January 1, 1996
[Mental retardation in fragile X syndrome]
J L Mandel, V Biancalana, M Cossée, et al.
Neurology
|
April 27, 2005
A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy
A Echaniz-Laguna, E Rousso, M Anheim, et al.
Human Genetics
|
September 16, 1998
Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor
C Zühlke, F Laccone, M Cossée, et al.
Revue Neurologique
|
June 1, 2005
[A clinical, neurophysiological and molecular study of 12 patients from 4 families with spinal and bulbar muscular atrophy]
A Echaniz-Laguna, E Rousso, M Anheim, et al.
Human Genetics
|
October 30, 1999
G130V, a common FRDA point mutation, appears to have arisen from a common founder
M B Delatycki, M Knight, M Koenig, et al.
Revue Neurologique
|
February 17, 2012
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene
F Bouquet, M Cossée, A Béhin, et al.
Revue Neurologique
|
March 25, 2008
[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male]
A Drouet, E Ollagnon-Roman, N Streichenberger, et al.
Pathologie-Biologie
|
May 13, 2006
Phenotype in X chromosome rearrangements: pitfalls of X inactivation study
C Schluth, M Cossée, F Girard-Lemaire, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 8, 1997
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations
M Cossée, M Schmitt, V Campuzano, et al.
Journal Francais D'Ophtalmologie
|
March 16, 2005
[Update on Bardet-Biedl syndrome]
H Dollfus, A Verloes, D Bonneau, et al.
Page
of 3