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Sascha Vermeer

Showing results (21-30 of 45) with videos related to

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The Journal of Molecular Diagnostics : JMD|September 26, 2009
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS geneSascha Vermeer, Rowdy P P Meijer, Tom G J Hofste, et al.
Developmental Medicine and Child Neurology|May 11, 2007
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed developmentSascha Vermeer, David A Koolen, Gepke Visser, et al.
Chest|July 12, 2023
Intrafamilial Correlation and Variability in the Clinical Evolution of Pulmonary FibrosisTinne Goos, Adriana Dubbeldam, Marie Vermant, et al.
Human Mutation|February 13, 2010
Massively parallel sequencing of ataxia genes after array-based enrichmentAlexander Hoischen, Christian Gilissen, Peer Arts, et al.
Neurogenetics|May 10, 2008
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxiaSascha Vermeer, Rowdy P P Meijer, Benjamin J Pijl, et al.
JAMA Neurology|August 5, 2014
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation studyMathilde Renaud, Mathieu Anheim, Erik-Jan Kamsteeg, et al.
Epilepsia|April 14, 2010
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic regionConstanze Reutlinger, Ingo Helbig, Barbara Gawelczyk, et al.
Frontiers in Immunology|January 20, 2022
Case Report: An Unusual Course of Angiosarcoma After Lung TransplantationSaskia Bos, Liesbeth Daniëls, Lucienne Michaux, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 3, 2017
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiencesOliver W Quarrell, Angus J Clarke, Cecilia Compton, et al.
Human Mutation|November 14, 2008
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureBert L Callewaert, Bart L Loeys, Anna Ficcadenti, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
The Journal of Molecular Diagnostics : JMD|September 26, 2009
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS geneSascha Vermeer, Rowdy P P Meijer, Tom G J Hofste, et al.
Developmental Medicine and Child Neurology|May 11, 2007
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed developmentSascha Vermeer, David A Koolen, Gepke Visser, et al.
Chest|July 12, 2023
Intrafamilial Correlation and Variability in the Clinical Evolution of Pulmonary FibrosisTinne Goos, Adriana Dubbeldam, Marie Vermant, et al.
Human Mutation|February 13, 2010
Massively parallel sequencing of ataxia genes after array-based enrichmentAlexander Hoischen, Christian Gilissen, Peer Arts, et al.
Neurogenetics|May 10, 2008
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxiaSascha Vermeer, Rowdy P P Meijer, Benjamin J Pijl, et al.
JAMA Neurology|August 5, 2014
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation studyMathilde Renaud, Mathieu Anheim, Erik-Jan Kamsteeg, et al.
Epilepsia|April 14, 2010
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic regionConstanze Reutlinger, Ingo Helbig, Barbara Gawelczyk, et al.
Frontiers in Immunology|January 20, 2022
Case Report: An Unusual Course of Angiosarcoma After Lung TransplantationSaskia Bos, Liesbeth Daniëls, Lucienne Michaux, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 3, 2017
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiencesOliver W Quarrell, Angus J Clarke, Cecilia Compton, et al.
Human Mutation|November 14, 2008
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureBert L Callewaert, Bart L Loeys, Anna Ficcadenti, et al.
Pageof 5