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Traffic (Copenhagen, Denmark)|January 4, 2012
Peroxisome formation requires the endoplasmic reticulum channel protein Sec61Sven Thoms, Imke Harms, Kai-Uwe Kalies, et al.
Journal of Neurodevelopmental Disorders|September 12, 2013
Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levelsCornelia Brendel, Benjamin Mielke, Merle Hillebrand, et al.
Journal of the Neurological Sciences|April 10, 2014
A novel ATP1A3 mutation with unique clinical presentationHendrik Rosewich, Martina Baethmann, Andreas Ohlenbusch, et al.
Epilepsia|April 29, 2005
Visually self-induced seizures sensitive to round objectsKnut Brockmann, Peter Huppke, Michael Karenfort, et al.
American Journal of Medical Genetics. Part A|August 9, 2005
Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2Peter Huppke, Andreas Ohlenbusch, Cornelia Brendel, et al.
Scientific Reports|May 19, 2018
Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomesKareem Soliman, Fabian Göttfert, Hendrik Rosewich, et al.
Journal of Pediatric Genetics|February 15, 2018
Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood DementiaMatthias Kettwig, Andreas Ohlenbusch, Klaus Jung, et al.
Pediatric Neurology|August 12, 2009
Immunoglobulin therapy in idiopathic hypothalamic dysfunctionPeter Huppke, Alexander Heise, Kevin Rostasy, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|September 19, 2009
Polymicrogyria in fetal alcohol syndromeKonstanze Reinhardt, Alexander Mohr, Jutta Gärtner, et al.
Human Molecular Genetics|August 20, 2004
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomesRobert Steinfeld, Hans-Bertram Steinke, Dirk Isbrandt, et al.
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