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J Chelly

Showing results (91-100 of 157) with videos related to

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American Journal of Medical Genetics|May 8, 1999
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large familyC Gendrot, N Ronce, M Raynaud, et al.
Neurology|April 25, 2008
The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndromeJ Nectoux, N Bahi-Buisson, I Guellec, et al.
Seizure|May 25, 2002
So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutationV des Portes, L Abaoub, A Joannard, et al.
Molecular and Cellular Neurosciences|October 10, 2001
Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous systemG Friocourt, P Chafey, P Billuart, et al.
Human Genetics|March 1, 1988
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasiaJ Chelly, F Marlhens, B Dutrillaux, et al.
Neuromuscular Disorders : NMD|January 1, 1991
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscleT S Khurana, S C Watkins, P Chafey, et al.
American Journal of Medical Genetics|July 9, 1999
Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1A Carrié, V Nepotes, P Billuart, et al.
Human Molecular Genetics|August 1, 1993
2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genesR G Lafrenière, C J Brown, S Rider, et al.
The Journal of Clinical Investigation|October 1, 1991
Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patientsJ Chelly, H Gilgenkrantz, J P Hugnot, et al.
Annales De Genetique|May 20, 2000
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardationP Billuart, J Chelly, A Carrié, et al.
Pageof 16

Showing results (91-100 of 157) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics|May 8, 1999
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large familyC Gendrot, N Ronce, M Raynaud, et al.
Neurology|April 25, 2008
The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndromeJ Nectoux, N Bahi-Buisson, I Guellec, et al.
Seizure|May 25, 2002
So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutationV des Portes, L Abaoub, A Joannard, et al.
Molecular and Cellular Neurosciences|October 10, 2001
Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous systemG Friocourt, P Chafey, P Billuart, et al.
Human Genetics|March 1, 1988
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasiaJ Chelly, F Marlhens, B Dutrillaux, et al.
Neuromuscular Disorders : NMD|January 1, 1991
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscleT S Khurana, S C Watkins, P Chafey, et al.
American Journal of Medical Genetics|July 9, 1999
Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1A Carrié, V Nepotes, P Billuart, et al.
Human Molecular Genetics|August 1, 1993
2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genesR G Lafrenière, C J Brown, S Rider, et al.
The Journal of Clinical Investigation|October 1, 1991
Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patientsJ Chelly, H Gilgenkrantz, J P Hugnot, et al.
Annales De Genetique|May 20, 2000
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardationP Billuart, J Chelly, A Carrié, et al.
Pageof 16