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Maja Steinlin

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

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Neurology|January 4, 2013
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsSabine Rudnik-Schöneborn, Jan Senderek, Joanna C Jen, et al.
Epilepsia|May 23, 2012
Targeted next generation sequencing as a diagnostic tool in epileptic disordersJohannes R Lemke, Erik Riesch, Tim Scheurenbrand, et al.
Human Genetics|November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 17, 2009
The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsyFlorian Heinen, Kaat Desloovere, A Sebastian Schroeder, et al.
Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.
BMC Pediatrics|February 18, 2018
Patterns of paediatric end-of-life care: a chart review across different care settings in SwitzerlandKarin Zimmermann, Eva Cignacco, Sandra Engberg, et al.
Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.
Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.
The Lancet. Child & Adolescent Health|October 14, 2024
Endovascular thrombectomy for childhood stroke (Save ChildS Pro): an international, multicentre, prospective registry studyPeter B Sporns, Kartik Bhatia, Todd Abruzzo, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Pageof 12

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

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 120 results.
Neurology|January 4, 2013
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsSabine Rudnik-Schöneborn, Jan Senderek, Joanna C Jen, et al.
Epilepsia|May 23, 2012
Targeted next generation sequencing as a diagnostic tool in epileptic disordersJohannes R Lemke, Erik Riesch, Tim Scheurenbrand, et al.
Human Genetics|November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 17, 2009
The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsyFlorian Heinen, Kaat Desloovere, A Sebastian Schroeder, et al.
Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.
BMC Pediatrics|February 18, 2018
Patterns of paediatric end-of-life care: a chart review across different care settings in SwitzerlandKarin Zimmermann, Eva Cignacco, Sandra Engberg, et al.
Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.
Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.
The Lancet. Child & Adolescent Health|October 14, 2024
Endovascular thrombectomy for childhood stroke (Save ChildS Pro): an international, multicentre, prospective registry studyPeter B Sporns, Kartik Bhatia, Todd Abruzzo, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Pageof 12