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P Guicheney

Showing results (111-120 of 143) with videos related to

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Neuromuscular Disorders : NMD|June 18, 2005
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genesA D'Amico, G Haliloglu, P Richard, et al.
European Heart Journal|March 21, 1998
Diagnostic performance of QT interval variables from 24-h electrocardiography in the long QT syndromeN Neyroud, P Maison-Blanche, I Denjoy, et al.
American Journal of Human Genetics|June 1, 1996
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the proteinM Nissinen, A Helbling-Leclerc, X Zhang, et al.
Circulation Research|February 19, 1999
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndromeN Neyroud, P Richard, N Vignier, et al.
Nature Genetics|September 10, 1998
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathyP Vicart, A Caron, P Guicheney, et al.
Nature Genetics|August 31, 2001
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndromeB Moghadaszadeh, N Petit, C Jaillard, et al.
Neuromuscular Disorders : NMD|June 26, 2010
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner patternN Deconinck, E Dion, R Ben Yaou, et al.
Circulation|February 27, 2001
Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutationsJ M Lupoglazoff, I Denjoy, M Berthet, et al.
Revue Neurologique|January 1, 1996
[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]M Fardeau, F M Tomé, A Helbling-Leclerc, et al.
Circulation|March 23, 1999
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrenceM Berthet, I Denjoy, C Donger, et al.
Pageof 15

Showing results (111-120 of 143) with videos related to

Sort By:
Pageof 15
Neuromuscular Disorders : NMD|June 18, 2005
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genesA D'Amico, G Haliloglu, P Richard, et al.
European Heart Journal|March 21, 1998
Diagnostic performance of QT interval variables from 24-h electrocardiography in the long QT syndromeN Neyroud, P Maison-Blanche, I Denjoy, et al.
American Journal of Human Genetics|June 1, 1996
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the proteinM Nissinen, A Helbling-Leclerc, X Zhang, et al.
Circulation Research|February 19, 1999
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndromeN Neyroud, P Richard, N Vignier, et al.
Nature Genetics|September 10, 1998
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathyP Vicart, A Caron, P Guicheney, et al.
Nature Genetics|August 31, 2001
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndromeB Moghadaszadeh, N Petit, C Jaillard, et al.
Neuromuscular Disorders : NMD|June 26, 2010
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner patternN Deconinck, E Dion, R Ben Yaou, et al.
Circulation|February 27, 2001
Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutationsJ M Lupoglazoff, I Denjoy, M Berthet, et al.
Revue Neurologique|January 1, 1996
[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]M Fardeau, F M Tomé, A Helbling-Leclerc, et al.
Circulation|March 23, 1999
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrenceM Berthet, I Denjoy, C Donger, et al.
Pageof 15