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T Voit

Showing results (121-130 of 143) with videos related to

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Neurology|December 29, 2005
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 geneH Jungbluth, H Zhou, L Hartley, et al.
Nucleosides, Nucleotides & Nucleic Acids|October 27, 2006
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiencyA B P van Kuilenburg, R Meinsma, B Assman, et al.
Neuromuscular Disorders : NMD|December 11, 2012
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patientsL Servais, N Deconinck, A Moraux, et al.
Neurology|January 12, 2005
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizuresR Straussberg, L Basel-Vanagaite, S Kivity, et al.
Genome Research|December 10, 1998
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14qC Paternotte, D Rudnicki, C Fizames, et al.
Journal of Medical Genetics|May 4, 2004
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndromeD Beltran-Valero de Bernabé, T Voit, C Longman, et al.
Neurology|December 15, 2004
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)J R M Oliveira, E Spiteri, M J Sobrido, et al.
American Journal of Human Genetics|March 31, 2000
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophyM Raffaele Di Barletta, E Ricci, G Galluzzi, et al.
Journal of Medical Genetics|June 1, 1997
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A Carrié, F Piccolo, F Leturcq, et al.
Neurology|March 17, 2000
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutationL Merlini, J C Kaplan, C Navarro, et al.
Pageof 15

Showing results (121-130 of 143) with videos related to

Sort By:
Pageof 15
Neurology|December 29, 2005
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 geneH Jungbluth, H Zhou, L Hartley, et al.
Nucleosides, Nucleotides & Nucleic Acids|October 27, 2006
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiencyA B P van Kuilenburg, R Meinsma, B Assman, et al.
Neuromuscular Disorders : NMD|December 11, 2012
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patientsL Servais, N Deconinck, A Moraux, et al.
Neurology|January 12, 2005
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizuresR Straussberg, L Basel-Vanagaite, S Kivity, et al.
Genome Research|December 10, 1998
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14qC Paternotte, D Rudnicki, C Fizames, et al.
Journal of Medical Genetics|May 4, 2004
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndromeD Beltran-Valero de Bernabé, T Voit, C Longman, et al.
Neurology|December 15, 2004
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)J R M Oliveira, E Spiteri, M J Sobrido, et al.
American Journal of Human Genetics|March 31, 2000
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophyM Raffaele Di Barletta, E Ricci, G Galluzzi, et al.
Journal of Medical Genetics|June 1, 1997
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A Carrié, F Piccolo, F Leturcq, et al.
Neurology|March 17, 2000
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutationL Merlini, J C Kaplan, C Navarro, et al.
Pageof 15