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L Merlini

Showing results (201-210 of 209) with videos related to

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Journal of Medical Genetics|April 16, 1998
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophyP Guicheney, N Vignier, X Zhang, et al.
Neurology|June 16, 2005
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathyS Lucioli, B Giusti, E Mercuri, et al.
American Journal of Human Genetics|May 1, 1997
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical originsI Richard, L Brenguier, P Dinçer, et al.
Neuromuscular Disorders : NMD|December 1, 1996
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophiesJ S Beckmann, I Richard, O Broux, et al.
Annals of Neurology|August 12, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C geneG Bonne, E Mercuri, A Muchir, et al.
Brain : a Journal of Neurology|February 4, 2005
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 geneA Sáenz, F Leturcq, A M Cobo, et al.
Neuromuscular Disorders : NMD|August 19, 2003
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)F Muntoni, B Valero de Bernabe, R Bittner, et al.
Neurology|March 23, 2007
Phenotypic clustering of lamin A/C mutations in neuromuscular patientsS Benedetti, I Menditto, M Degano, et al.
Neuromuscular Disorders : NMD|October 29, 2000
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countriesD Chandler, D Angelicheva, L Heather, et al.
Pageof 21

Showing results (201-210 of 209) with videos related to

Sort By:
Pageof 21
You have reached the last page of results.This site can display upto 209 results.
Journal of Medical Genetics|April 16, 1998
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophyP Guicheney, N Vignier, X Zhang, et al.
Neurology|June 16, 2005
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathyS Lucioli, B Giusti, E Mercuri, et al.
American Journal of Human Genetics|May 1, 1997
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical originsI Richard, L Brenguier, P Dinçer, et al.
Neuromuscular Disorders : NMD|December 1, 1996
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophiesJ S Beckmann, I Richard, O Broux, et al.
Annals of Neurology|August 12, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C geneG Bonne, E Mercuri, A Muchir, et al.
Brain : a Journal of Neurology|February 4, 2005
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 geneA Sáenz, F Leturcq, A M Cobo, et al.
Neuromuscular Disorders : NMD|August 19, 2003
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)F Muntoni, B Valero de Bernabe, R Bittner, et al.
Neurology|March 23, 2007
Phenotypic clustering of lamin A/C mutations in neuromuscular patientsS Benedetti, I Menditto, M Degano, et al.
Neuromuscular Disorders : NMD|October 29, 2000
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countriesD Chandler, D Angelicheva, L Heather, et al.
Pageof 21