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J Senderek

Showing results (11-20 of 25) with videos related to

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European Journal of Medical Genetics|August 15, 2006
Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISHA Roos, S Rudnik-Schöneborn, K Eggermann, et al.
Molecular Genetics and Metabolism|June 2, 2001
A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopaV T Ramaekers, J Senderek, M Häusler, et al.
Brain Pathology (Zurich, Switzerland)|April 14, 2000
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124MetJ Senderek, B Hermanns, U Lehmann, et al.
Molecular Syndromology|January 18, 2013
5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual DisabilityW Kleffmann, A M Zink, J A Lee, et al.
Journal of the Neurological Sciences|October 16, 1999
X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1)J Senderek, B Hermanns, C Bergmann, et al.
Neurology|August 27, 2003
Reduced folate transport to the CNS in female Rett patientsV T Ramaekers, S I Hansen, J Holm, et al.
Clinical Genetics|June 18, 2004
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 geneK Zerres, J Senderek, S Rudnik-Schöneborn, et al.
Clinical Nephrology|March 7, 2007
PDGF-B gene single-nucleotide polymorphisms are not predictive for disease onset or progression of IgA nephropathyB Bicanski, M Wenderdel, Peter R Mertens, et al.
American Journal of Human Genetics|December 23, 2006
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychiaC Bergmann, J Senderek, D Anhuf, et al.
European Journal of Neurology|August 7, 2020
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutationsD Safka Brozkova, T Stojkovic, J Haberlová, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
European Journal of Medical Genetics|August 15, 2006
Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISHA Roos, S Rudnik-Schöneborn, K Eggermann, et al.
Molecular Genetics and Metabolism|June 2, 2001
A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopaV T Ramaekers, J Senderek, M Häusler, et al.
Brain Pathology (Zurich, Switzerland)|April 14, 2000
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124MetJ Senderek, B Hermanns, U Lehmann, et al.
Molecular Syndromology|January 18, 2013
5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual DisabilityW Kleffmann, A M Zink, J A Lee, et al.
Journal of the Neurological Sciences|October 16, 1999
X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1)J Senderek, B Hermanns, C Bergmann, et al.
Neurology|August 27, 2003
Reduced folate transport to the CNS in female Rett patientsV T Ramaekers, S I Hansen, J Holm, et al.
Clinical Genetics|June 18, 2004
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 geneK Zerres, J Senderek, S Rudnik-Schöneborn, et al.
Clinical Nephrology|March 7, 2007
PDGF-B gene single-nucleotide polymorphisms are not predictive for disease onset or progression of IgA nephropathyB Bicanski, M Wenderdel, Peter R Mertens, et al.
American Journal of Human Genetics|December 23, 2006
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychiaC Bergmann, J Senderek, D Anhuf, et al.
European Journal of Neurology|August 7, 2020
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutationsD Safka Brozkova, T Stojkovic, J Haberlová, et al.
Pageof 3