Showing results (1-10 of 15) with videos related to
Sort By:
Pageof 2
Journal of the Neurological Sciences|April 10, 2014
A novel ATP1A3 mutation with unique clinical presentationHendrik Rosewich, Martina Baethmann, Andreas Ohlenbusch, et al.European Journal of Medical Genetics|January 26, 2018
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variantsTatjana Bierhals, Georg Christoph Korenke, Martina Baethmann, et al.Journal of Psychosomatic Research|October 16, 2012
Is the Children's Depression Inventory Short version a valid screening tool in pediatric care? A comparison to its full-length versionAntje-Kathrin Allgaier, Barbara Frühe, Kathrin Pietsch, et al.Child Psychiatry and Human Development|September 20, 2011
Children's Depression Screener (ChilD-S): development and validation of a depression screening instrument for children in pediatric careBarbara Frühe, Antje-Kathrin Allgaier, Kathrin Pietsch, et al.Neuromuscular Disorders : NMD|July 24, 2007
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patientsWolfgang Müller-Felber, Rita Horvath, Klaus Gempel, et al.Neurology|February 14, 2014
The expanding clinical and genetic spectrum of ATP1A3-related disordersHendrik Rosewich, Andreas Ohlenbusch, Peter Huppke, et al.Journal of Medical Genetics|April 10, 2017
Confirmation of mutations in <i>PROSC</i> as a novel cause of vitamin B <sub></sub> -dependent epilepsyBarbara Plecko, Markus Zweier, Anaïs Begemann, et al.JIMD Reports|January 29, 2015
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in GermanyAndreas Hahn, Susanne Praetorius, Nesrin Karabul, et al.American Journal of Human Genetics|October 21, 2003
eIF2B-related disorders: antenatal onset and involvement of multiple organsMarjo S van der Knaap, Carola G M van Berkel, Jochen Herms, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.Pageof 2