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E Bertini

Showing results (141-150 of 205) with videos related to

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Cerebellum (London, England)|March 6, 2019
Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital AtaxiaGinevra Zanni, P De Magistris, M Nardella, et al.
Cerebellum (London, England)|February 12, 2019
Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital AtaxiaGinevra Zanni, P De Magistris, M Nardella, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patientsU Caruso, A Adami, E Bertini, et al.
Clinical and Experimental Immunology|December 12, 2001
Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopeniaL Racioppi, C Cancrini, M L Romiti, et al.
Neurology|January 14, 2004
Clinical and molecular findings in patients with giant axonal neuropathy (GAN)C Bruno, E Bertini, A Federico, et al.
Neuromuscular Disorders : NMD|November 28, 2012
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseasesM Mancuso, C Angelini, E Bertini, et al.
Neurology|October 14, 2005
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni, Y Saillour, M Nagara, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|November 3, 2001
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblastsP Sabatelli, P Bonaldo, G Lattanzi, et al.
Neuropediatrics|October 12, 2005
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutationE Bertini, M A Donati, P Broda, et al.
Neurology|February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 familiesG Lesca, E Eymard-Pierre, F M Santorelli, et al.
Pageof 21

Showing results (141-150 of 205) with videos related to

Sort By:
Pageof 21
Cerebellum (London, England)|March 6, 2019
Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital AtaxiaGinevra Zanni, P De Magistris, M Nardella, et al.
Cerebellum (London, England)|February 12, 2019
Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital AtaxiaGinevra Zanni, P De Magistris, M Nardella, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patientsU Caruso, A Adami, E Bertini, et al.
Clinical and Experimental Immunology|December 12, 2001
Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopeniaL Racioppi, C Cancrini, M L Romiti, et al.
Neurology|January 14, 2004
Clinical and molecular findings in patients with giant axonal neuropathy (GAN)C Bruno, E Bertini, A Federico, et al.
Neuromuscular Disorders : NMD|November 28, 2012
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseasesM Mancuso, C Angelini, E Bertini, et al.
Neurology|October 14, 2005
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni, Y Saillour, M Nagara, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|November 3, 2001
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblastsP Sabatelli, P Bonaldo, G Lattanzi, et al.
Neuropediatrics|October 12, 2005
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutationE Bertini, M A Donati, P Broda, et al.
Neurology|February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 familiesG Lesca, E Eymard-Pierre, F M Santorelli, et al.
Pageof 21