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Frank Baas

Showing results (171-180 of 231) with videos related to

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European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1Bart Appelhof, Matias Wagner, Julia Hoefele, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, et al.
American Journal of Human Genetics|January 26, 2010
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophiesVéronique Bolduc, Gareth Marlow, Kym M Boycott, et al.
Human Molecular Genetics|January 22, 2020
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patientsGido Gravesteijn, Johannes G Dauwerse, Maurice Overzier, et al.
The Journal of Clinical Investigation|October 6, 2010
Molecular profiling of cytomegalovirus-induced human CD8+ T cell differentiationKirsten M L Hertoghs, Perry D Moerland, Amber van Stijn, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 10, 2012
Phenotypes and genetic architecture of focal primary torsion dystoniaJustus L Groen, Marlot C Kallen, Bart P C van de Warrenburg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 6, 2010
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulationJustus L Groen, Katja Ritz, Maria Fiorella Contarino, et al.
Hepatology (Baltimore, Md.)|March 26, 2016
Immunoglobulin G4(+) B-cell receptor clones distinguish immunoglobulin G 4-related disease from primary sclerosing cholangitis and biliary/pancreatic malignanciesMarieke E Doorenspleet, Lowiek M Hubers, Emma L Culver, et al.
Trials|December 5, 2021
Safety and efficacy of C1-inhibitor in traumatic brain injury (CIAO@TBI): study protocol for a randomized, placebo-controlled, multi-center trialInge A M van Erp, Thomas A van Essen, Kees Fluiter, et al.
Pageof 24

Showing results (171-180 of 231) with videos related to

Sort By:
Pageof 24
European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1Bart Appelhof, Matias Wagner, Julia Hoefele, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, et al.
American Journal of Human Genetics|January 26, 2010
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophiesVéronique Bolduc, Gareth Marlow, Kym M Boycott, et al.
Human Molecular Genetics|January 22, 2020
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patientsGido Gravesteijn, Johannes G Dauwerse, Maurice Overzier, et al.
The Journal of Clinical Investigation|October 6, 2010
Molecular profiling of cytomegalovirus-induced human CD8+ T cell differentiationKirsten M L Hertoghs, Perry D Moerland, Amber van Stijn, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 10, 2012
Phenotypes and genetic architecture of focal primary torsion dystoniaJustus L Groen, Marlot C Kallen, Bart P C van de Warrenburg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 6, 2010
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulationJustus L Groen, Katja Ritz, Maria Fiorella Contarino, et al.
Hepatology (Baltimore, Md.)|March 26, 2016
Immunoglobulin G4(+) B-cell receptor clones distinguish immunoglobulin G 4-related disease from primary sclerosing cholangitis and biliary/pancreatic malignanciesMarieke E Doorenspleet, Lowiek M Hubers, Emma L Culver, et al.
Trials|December 5, 2021
Safety and efficacy of C1-inhibitor in traumatic brain injury (CIAO@TBI): study protocol for a randomized, placebo-controlled, multi-center trialInge A M van Erp, Thomas A van Essen, Kees Fluiter, et al.
Pageof 24