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Ute Moog

Showing results (71-80 of 79) with videos related to

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Brain : a Journal of Neurology|October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyDiana Alcantara, Andrew E Timms, Karen Gripp, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
Journal of Medical Genetics|October 28, 2015
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementMegana K Prasad, Véronique Geoffroy, Serge Vicaire, et al.
Nature Genetics|July 30, 2015
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perceptionYa-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Nature Genetics|May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perceptionYa-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Brain : a Journal of Neurology|April 6, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disordersMarkus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Pageof 8

Showing results (71-80 of 79) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 79 results.
Brain : a Journal of Neurology|October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyDiana Alcantara, Andrew E Timms, Karen Gripp, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
Journal of Medical Genetics|October 28, 2015
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementMegana K Prasad, Véronique Geoffroy, Serge Vicaire, et al.
Nature Genetics|July 30, 2015
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perceptionYa-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Nature Genetics|May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perceptionYa-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Brain : a Journal of Neurology|April 6, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disordersMarkus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
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