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Jan Senderek

Showing results (21-30 of 104) with videos related to

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Brain : a Journal of Neurology|June 14, 2003
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasiaCarsten Bergmann, Klaus Zerres, Jan Senderek, et al.
Journal of Biological Inorganic Chemistry : JBIC : a Publication of the Society of Biological Inorganic Chemistry|March 10, 2026
A bioinorganic view on the potential chemical space of hydroxyphenylpyruvate dioxygenase-like (HPDL) enzymesNiko S W Lindlar, Rolf Stucka, Sophie M Gutenthaler-Tietze, et al.
Journal of the Neurological Sciences|July 19, 2015
Behr syndrome with homozygous C19ORF12 mutationIlka Kleffner, Caroline Wessling, Burkhard Gess, et al.
Oncotarget|October 6, 2017
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndromeLaxmikanth Kollipara, Stephan Buchkremer, José Andrés González Coraspe, et al.
Hepatology (Baltimore, Md.)|April 15, 2005
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)Markus Moser, Sonja Matthiesen, Jutta Kirfel, et al.
Journal of Neurology|February 16, 2019
Congenital myasthenic syndrome caused by novel COL13A1 mutationsMarina Dusl, Teresa Moreno, Francina Munell, et al.
Human Molecular Genetics|March 14, 2015
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndromeMarina Dusl, Jan Senderek, Juliane S Müller, et al.
Human Molecular Genetics|January 30, 2003
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15Jan Senderek, Carsten Bergmann, Susanne Weber, et al.
Brain : a Journal of Neurology|June 23, 2017
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 familyTessa van Dijk, Sabine Rudnik-Schöneborn, Jan Senderek, et al.
Neurogenetics|December 1, 2006
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophySabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, et al.
Pageof 11

Showing results (21-30 of 104) with videos related to

Sort By:
Pageof 11
Brain : a Journal of Neurology|June 14, 2003
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasiaCarsten Bergmann, Klaus Zerres, Jan Senderek, et al.
Journal of Biological Inorganic Chemistry : JBIC : a Publication of the Society of Biological Inorganic Chemistry|March 10, 2026
A bioinorganic view on the potential chemical space of hydroxyphenylpyruvate dioxygenase-like (HPDL) enzymesNiko S W Lindlar, Rolf Stucka, Sophie M Gutenthaler-Tietze, et al.
Journal of the Neurological Sciences|July 19, 2015
Behr syndrome with homozygous C19ORF12 mutationIlka Kleffner, Caroline Wessling, Burkhard Gess, et al.
Oncotarget|October 6, 2017
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndromeLaxmikanth Kollipara, Stephan Buchkremer, José Andrés González Coraspe, et al.
Hepatology (Baltimore, Md.)|April 15, 2005
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)Markus Moser, Sonja Matthiesen, Jutta Kirfel, et al.
Journal of Neurology|February 16, 2019
Congenital myasthenic syndrome caused by novel COL13A1 mutationsMarina Dusl, Teresa Moreno, Francina Munell, et al.
Human Molecular Genetics|March 14, 2015
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndromeMarina Dusl, Jan Senderek, Juliane S Müller, et al.
Human Molecular Genetics|January 30, 2003
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15Jan Senderek, Carsten Bergmann, Susanne Weber, et al.
Brain : a Journal of Neurology|June 23, 2017
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 familyTessa van Dijk, Sabine Rudnik-Schöneborn, Jan Senderek, et al.
Neurogenetics|December 1, 2006
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophySabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, et al.
Pageof 11