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Jan Senderek

Showing results (11-20 of 104) with videos related to

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American Journal of Medical Genetics. Part A|August 12, 2003
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)Carsten Bergmann, Klaus Zerres, Thomas Peschgens, et al.
Journal of Medical Genetics|June 7, 2007
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblingsMiriam Elbracht, Jan Senderek, Thomas Eggermann, et al.
Brain : a Journal of Neurology|March 5, 2003
A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier diseaseStephan Züchner, Anne D Sperfeld, Jan Senderek, et al.
BMC Medical Genetics|September 18, 2013
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromesOlivia Schreiber, Peter Schneiderat, Wolfram Kress, et al.
Pathology, Research and Practice|July 5, 2005
Vascular changes in the periosteum of congenital pseudarthrosis of the tibiaBenita Hermanns-Sachweh, Jan Senderek, Joachim Alfer, et al.
American Journal of Medical Genetics. Part A|August 14, 2008
A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variantAndreas Roos, Miriam Elbracht, Michael Baudis, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutationSabine Rudnik-Schöneborn, Tsutomu Takahashi, Sabine Busse, et al.
Gene Expression Patterns : GEP|June 6, 2006
Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2Jutta Kirfel, Jan Senderek, Markus Moser, et al.
Annals of Human Genetics|May 6, 2006
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)Sean M Garvey, Jan Senderek, Jacques S Beckmann, et al.
Acta Neuropathologica|November 30, 2016
Towards a functional pathology of hereditary neuropathiesJoachim Weis, Kristl G Claeys, Andreas Roos, et al.
Pageof 11

Showing results (11-20 of 104) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|August 12, 2003
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)Carsten Bergmann, Klaus Zerres, Thomas Peschgens, et al.
Journal of Medical Genetics|June 7, 2007
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblingsMiriam Elbracht, Jan Senderek, Thomas Eggermann, et al.
Brain : a Journal of Neurology|March 5, 2003
A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier diseaseStephan Züchner, Anne D Sperfeld, Jan Senderek, et al.
BMC Medical Genetics|September 18, 2013
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromesOlivia Schreiber, Peter Schneiderat, Wolfram Kress, et al.
Pathology, Research and Practice|July 5, 2005
Vascular changes in the periosteum of congenital pseudarthrosis of the tibiaBenita Hermanns-Sachweh, Jan Senderek, Joachim Alfer, et al.
American Journal of Medical Genetics. Part A|August 14, 2008
A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variantAndreas Roos, Miriam Elbracht, Michael Baudis, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutationSabine Rudnik-Schöneborn, Tsutomu Takahashi, Sabine Busse, et al.
Gene Expression Patterns : GEP|June 6, 2006
Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2Jutta Kirfel, Jan Senderek, Markus Moser, et al.
Annals of Human Genetics|May 6, 2006
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)Sean M Garvey, Jan Senderek, Jacques S Beckmann, et al.
Acta Neuropathologica|November 30, 2016
Towards a functional pathology of hereditary neuropathiesJoachim Weis, Kristl G Claeys, Andreas Roos, et al.
Pageof 11