Showing results (61-70 of 166) with videos related to
Sort By:
Pageof 17
Human Mutation|October 1, 2003
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine diseaseMarco Henneke, Nadine Flaschker, Christoph Helbling, et al.European Journal of Human Genetics : EJHG|January 17, 2013
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiencyLars Schlotawa, Karthikeyan Radhakrishnan, Matthias Baumgartner, et al.Plos One|March 23, 2018
Cognitive deficits including executive functioning in relation to clinical parameters in paediatric MS patientsEva Wuerfel, Almuth Weddige, York Hagmayer, et al.European Journal of Human Genetics : EJHG|July 17, 2008
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430PheKatrin Koehler, Knut Brockmann, Manuela Krumbholz, et al.The Journal of Physiology|January 6, 2007
Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout miceGeorg M Stettner, Peter Huppke, Cornelia Brendel, et al.Elife|September 24, 2014
Peroxisomal lactate dehydrogenase is generated by translational readthrough in mammalsFabian Schueren, Thomas Lingner, Rosemol George, et al.Journal of Child Neurology|February 25, 2003
Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi GroupNeil R M Buist, Olivier Dulac, Teodoro Bottiglieri, et al.Brain & Development|May 12, 2009
Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adultsAlfried Kohlschütter, Annette Bley, Knut Brockmann, et al.European Journal of Pediatrics|February 24, 2005
Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposisSilvija Jerkic, Hendrik Rosewich, Jens-Gerd Scharf, et al.Neuropediatrics|June 30, 2021
Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and MicroscalesHans C Ludwig, Hans C Bock, Jutta Gärtner, et al.Pageof 17