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Sophie Thomas

Showing results (31-40 of 83) with videos related to

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Birth Defects Research. Part A, Clinical and Molecular Teratology|July 19, 2012
Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE)Deidre R Krupp, Pu-Ting Xu, Sophie Thomas, et al.
American Journal of Medical Genetics. Part A|February 8, 2017
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutationCamille Maillard, Mara Cavallin, Kevin Piquand, et al.
Journal of Neuropathology and Experimental Neurology|April 11, 2017
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 MutationsAnnie Laquerriere, Camille Maillard, Mara Cavallin, et al.
European Journal of Cancer (Oxford, England : 1990)|September 4, 2007
Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastomaLoïc de Pontual, Delphine Trochet, Franck Bourdeaut, et al.
Birth Defects Research|January 10, 2018
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1Séverine Bacrot, Charlotte Mechler, Naima Talhi, et al.
Birth Defects Research|January 23, 2018
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral patternSuzanne Chartier, Caroline Alby, Lucile Boutaud, et al.
The Journal of Experimental Medicine|February 24, 2016
Mediator facilitates transcriptional activation and dynamic long-range contacts at the IgH locus during class switch recombinationAnne-Sophie Thomas-Claudepierre, Isabelle Robert, Pedro P Rocha, et al.
Fertility and Sterility|January 10, 2024
Quantitative ultrasound measurement of uterine contractility in adenomyotic vs. normal uteri: a multicenter prospective studyConnie O Rees, Sophie Thomas, Anna de Boer, et al.
Pediatric Blood & Cancer|February 12, 2025
Cognitive Outcomes in Children Treated for Ependymoma Diagnosed Under 36 Months: A Systematic ReviewSophie Thomas, Emily Morley, Timothy Ritzmann, et al.
American Journal of Human Genetics|May 16, 2007
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, et al.
Pageof 9

Showing results (31-40 of 83) with videos related to

Sort By:
Pageof 9
Birth Defects Research. Part A, Clinical and Molecular Teratology|July 19, 2012
Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE)Deidre R Krupp, Pu-Ting Xu, Sophie Thomas, et al.
American Journal of Medical Genetics. Part A|February 8, 2017
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutationCamille Maillard, Mara Cavallin, Kevin Piquand, et al.
Journal of Neuropathology and Experimental Neurology|April 11, 2017
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 MutationsAnnie Laquerriere, Camille Maillard, Mara Cavallin, et al.
European Journal of Cancer (Oxford, England : 1990)|September 4, 2007
Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastomaLoïc de Pontual, Delphine Trochet, Franck Bourdeaut, et al.
Birth Defects Research|January 10, 2018
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1Séverine Bacrot, Charlotte Mechler, Naima Talhi, et al.
Birth Defects Research|January 23, 2018
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral patternSuzanne Chartier, Caroline Alby, Lucile Boutaud, et al.
The Journal of Experimental Medicine|February 24, 2016
Mediator facilitates transcriptional activation and dynamic long-range contacts at the IgH locus during class switch recombinationAnne-Sophie Thomas-Claudepierre, Isabelle Robert, Pedro P Rocha, et al.
Fertility and Sterility|January 10, 2024
Quantitative ultrasound measurement of uterine contractility in adenomyotic vs. normal uteri: a multicenter prospective studyConnie O Rees, Sophie Thomas, Anna de Boer, et al.
Pediatric Blood & Cancer|February 12, 2025
Cognitive Outcomes in Children Treated for Ependymoma Diagnosed Under 36 Months: A Systematic ReviewSophie Thomas, Emily Morley, Timothy Ritzmann, et al.
American Journal of Human Genetics|May 16, 2007
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, et al.
Pageof 9