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J Melki

Showing results (51-60 of 79) with videos related to

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American Journal of Human Genetics|September 1, 1994
Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical GroupO Boespflug-Tanguy, C Mimault, J Melki, et al.
Annales De Genetique|January 1, 1990
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneityJ Kaplan, G Guasconi, D Bonneau, et al.
The Journal of Cardiovascular Surgery|October 19, 2002
Closure of carotid bifurcation endarterectomy using a polyurethane patch. A multicentre prospective study with 252 patientsJ Melki, G Perrier, Y Kerdiles, et al.
Human Molecular Genetics|April 6, 2000
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophyT Frugier, F D Tiziano, C Cifuentes-Diaz, et al.
The Journal of Cell Biology|March 10, 2001
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophyC Cifuentes-Diaz, T Frugier, F D Tiziano, et al.
American Journal of Human Genetics|January 1, 1997
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann diseaseL Bürglen, T Seroz, P Miniou, et al.
Genomics|March 1, 1993
Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy geneJ Melki, P Burlet, O Clermont, et al.
Annals of Neurology|May 1, 1997
Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA geneR Navon, R Khosravi, J Melki, et al.
Journal of Medical Genetics|March 1, 1992
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probesJ Melki, S Abdelhak, P Burlet, et al.
Science (New York, N.Y.)|June 3, 1994
De novo and inherited deletions of the 5q13 region in spinal muscular atrophiesJ Melki, S Lefebvre, L Burglen, et al.
Pageof 8

Showing results (51-60 of 79) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|September 1, 1994
Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical GroupO Boespflug-Tanguy, C Mimault, J Melki, et al.
Annales De Genetique|January 1, 1990
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneityJ Kaplan, G Guasconi, D Bonneau, et al.
The Journal of Cardiovascular Surgery|October 19, 2002
Closure of carotid bifurcation endarterectomy using a polyurethane patch. A multicentre prospective study with 252 patientsJ Melki, G Perrier, Y Kerdiles, et al.
Human Molecular Genetics|April 6, 2000
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophyT Frugier, F D Tiziano, C Cifuentes-Diaz, et al.
The Journal of Cell Biology|March 10, 2001
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophyC Cifuentes-Diaz, T Frugier, F D Tiziano, et al.
American Journal of Human Genetics|January 1, 1997
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann diseaseL Bürglen, T Seroz, P Miniou, et al.
Genomics|March 1, 1993
Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy geneJ Melki, P Burlet, O Clermont, et al.
Annals of Neurology|May 1, 1997
Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA geneR Navon, R Khosravi, J Melki, et al.
Journal of Medical Genetics|March 1, 1992
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probesJ Melki, S Abdelhak, P Burlet, et al.
Science (New York, N.Y.)|June 3, 1994
De novo and inherited deletions of the 5q13 region in spinal muscular atrophiesJ Melki, S Lefebvre, L Burglen, et al.
Pageof 8