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H Topaloglu

Showing results (51-60 of 69) with videos related to

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European Journal of Human Genetics : EJHG|July 26, 2000
Giant axonal neuropathy locus refinement to a < 590 kb critical intervalL Cavalier, C BenHamida, R Amouri, et al.
Journal of Medical Genetics|November 25, 2003
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotypeD Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, et al.
Neuromuscular Disorders : NMD|May 1, 1997
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosisP Guicheney, N Vignier, A Helbling-Leclerc, et al.
Neurology|April 26, 2001
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.
Developmental Cell|November 16, 2001
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1A Yoshida, K Kobayashi, H Manya, et al.
Nature Genetics|December 2, 2000
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)S Nicole, C S Davoine, H Topaloglu, et al.
Neuromuscular Disorders : NMD|August 25, 2019
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counselingG Toksoy, H Durmus, A Aghayev, et al.
Human Genetics|September 1, 1996
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM intervalB Fontaine, S Nicole, H Topaloglu, et al.
Clinical Genetics|July 21, 2018
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2P Laššuthová, K Vill, S Erdem-Ozdamar, et al.
Journal of Medical Genetics|September 6, 2005
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypesG Piluso, L Politano, S Aurino, et al.
Pageof 7

Showing results (51-60 of 69) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|July 26, 2000
Giant axonal neuropathy locus refinement to a < 590 kb critical intervalL Cavalier, C BenHamida, R Amouri, et al.
Journal of Medical Genetics|November 25, 2003
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotypeD Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, et al.
Neuromuscular Disorders : NMD|May 1, 1997
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosisP Guicheney, N Vignier, A Helbling-Leclerc, et al.
Neurology|April 26, 2001
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.
Developmental Cell|November 16, 2001
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1A Yoshida, K Kobayashi, H Manya, et al.
Nature Genetics|December 2, 2000
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)S Nicole, C S Davoine, H Topaloglu, et al.
Neuromuscular Disorders : NMD|August 25, 2019
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counselingG Toksoy, H Durmus, A Aghayev, et al.
Human Genetics|September 1, 1996
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM intervalB Fontaine, S Nicole, H Topaloglu, et al.
Clinical Genetics|July 21, 2018
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2P Laššuthová, K Vill, S Erdem-Ozdamar, et al.
Journal of Medical Genetics|September 6, 2005
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypesG Piluso, L Politano, S Aurino, et al.
Pageof 7