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H Topaloglu

Showing results (31-40 of 69) with videos related to

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Clinical Neurology and Neurosurgery|February 1, 1994
Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized associationE Erdem, H Kiratli, T Erbaş, et al.
Neuromuscular Disorders : NMD|March 1, 1997
Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiencyE Tan, H Topaloglu, C Sewry, et al.
American Journal of Human Genetics|January 23, 1999
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mappingB Cormand, K Avela, H Pihko, et al.
Neurology|March 26, 2003
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cystsH Topaloglu, M Brockington, Y Yuva, et al.
Human Molecular Genetics|September 1, 1994
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mappingD Hillaire, A Leclerc, S Fauré, et al.
Neuropediatrics|May 6, 2004
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 lociE Demir, A Ferreiro, P Sabatelli, et al.
American Journal of Human Genetics|March 21, 2000
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42M Brockington, C A Sewry, R Herrmann, et al.
American Journal of Human Genetics|June 19, 1998
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36B Moghadaszadeh, I Desguerre, H Topaloglu, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|December 1, 1995
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2A Helbling-Leclerc, H Topaloglu, F M Tomé, et al.
Nature Genetics|October 1, 1995
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophyA Helbling-Leclerc, X Zhang, H Topaloglu, et al.
Pageof 7

Showing results (31-40 of 69) with videos related to

Sort By:
Pageof 7
Clinical Neurology and Neurosurgery|February 1, 1994
Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized associationE Erdem, H Kiratli, T Erbaş, et al.
Neuromuscular Disorders : NMD|March 1, 1997
Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiencyE Tan, H Topaloglu, C Sewry, et al.
American Journal of Human Genetics|January 23, 1999
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mappingB Cormand, K Avela, H Pihko, et al.
Neurology|March 26, 2003
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cystsH Topaloglu, M Brockington, Y Yuva, et al.
Human Molecular Genetics|September 1, 1994
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mappingD Hillaire, A Leclerc, S Fauré, et al.
Neuropediatrics|May 6, 2004
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 lociE Demir, A Ferreiro, P Sabatelli, et al.
American Journal of Human Genetics|March 21, 2000
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42M Brockington, C A Sewry, R Herrmann, et al.
American Journal of Human Genetics|June 19, 1998
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36B Moghadaszadeh, I Desguerre, H Topaloglu, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|December 1, 1995
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2A Helbling-Leclerc, H Topaloglu, F M Tomé, et al.
Nature Genetics|October 1, 1995
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophyA Helbling-Leclerc, X Zhang, H Topaloglu, et al.
Pageof 7