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Knut Brockmann

Showing results (111-120 of 125) with videos related to

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Molecular Genetics & Genomic Medicine|April 2, 2014
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minorsStefanie Spiegler, Juliane Najm, Jian Liu, et al.
Human Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, et al.
Annals of Clinical and Translational Neurology|April 26, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- miceMilka Pringsheim, Diana Mitter, Simone Schröder, 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.
Biomedicines|October 31, 2020
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in ChildhoodJan Henje Döring, Afshin Saffari, Thomas Bast, et al.
Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.
The New England Journal of Medicine|July 29, 2011
A mosaic activating mutation in AKT1 associated with the Proteus syndromeMarjorie J Lindhurst, Julie C Sapp, Jamie K Teer, et al.
Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.
Human Mutation|December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionPaola S Denora, David Schlesinger, Carlo Casali, et al.
Seizure|February 24, 2018
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trialMoritz Tacke, Ingo Borggraefe, Lucia Gerstl, et al.
Pageof 13

Showing results (111-120 of 125) with videos related to

Sort By:
Pageof 13
Molecular Genetics & Genomic Medicine|April 2, 2014
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minorsStefanie Spiegler, Juliane Najm, Jian Liu, et al.
Human Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, et al.
Annals of Clinical and Translational Neurology|April 26, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- miceMilka Pringsheim, Diana Mitter, Simone Schröder, 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.
Biomedicines|October 31, 2020
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in ChildhoodJan Henje Döring, Afshin Saffari, Thomas Bast, et al.
Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.
The New England Journal of Medicine|July 29, 2011
A mosaic activating mutation in AKT1 associated with the Proteus syndromeMarjorie J Lindhurst, Julie C Sapp, Jamie K Teer, et al.
Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.
Human Mutation|December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionPaola S Denora, David Schlesinger, Carlo Casali, et al.
Seizure|February 24, 2018
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trialMoritz Tacke, Ingo Borggraefe, Lucia Gerstl, et al.
Pageof 13