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Jeremy Schwartzentruber

Showing results (1-10 of 91) with videos related to

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Cold Spring Harbor Perspectives in Biology|April 3, 2014
Histone H3 mutations in pediatric brain tumorsXiaoyang Liu, Troy A McEachron, Jeremy Schwartzentruber, et al.
Journal of Medical Genetics|July 7, 2011
What can exome sequencing do for you?Jacek Majewski, Jeremy Schwartzentruber, Emilie Lalonde, et al.
Neurology|February 20, 2015
Two cases of congenital myasthenic syndrome with vocal cord paralysisRashid Al-Shahoumi, Lauren I Brady, Jeremy Schwartzentruber, et al.
Nucleic Acids Research|May 1, 2023
Screening for functional regulatory variants in open chromatin using GenIE-ATACSarah Cooper, Jeremy Schwartzentruber, Eve L Coomber, et al.
Nucleic Acids Research|November 5, 2020
Screening for functional transcriptional and splicing regulatory variants with GenIESarah E Cooper, Jeremy Schwartzentruber, Erica Bello, et al.
Plos One|December 11, 2013
Bridging the gap between single molecule and ensemble methods for measuring lateral dynamics in the plasma membraneEva C Arnspang, Jeremy Schwartzentruber, Mathias P Clausen, et al.
Ophthalmic Genetics|February 1, 2013
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North AmericaLance Doucette, Jane Green, Coleman Black, et al.
European Journal of Human Genetics : EJHG|March 16, 2017
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestationsAisha Nazli, Adeel Safdar, Ayesha Saleem, et al.
Pediatrics|January 16, 2013
Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapyDong-Anh Khuong-Quang, Jeremy Schwartzentruber, Mark Westerman, et al.
BMC Medical Genetics|May 1, 2015
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literaturePatrick Frosk, Bernard Chodirker, Louise Simard, et al.
Pageof 10

Showing results (1-10 of 91) with videos related to

Sort By:
Pageof 10
Cold Spring Harbor Perspectives in Biology|April 3, 2014
Histone H3 mutations in pediatric brain tumorsXiaoyang Liu, Troy A McEachron, Jeremy Schwartzentruber, et al.
Journal of Medical Genetics|July 7, 2011
What can exome sequencing do for you?Jacek Majewski, Jeremy Schwartzentruber, Emilie Lalonde, et al.
Neurology|February 20, 2015
Two cases of congenital myasthenic syndrome with vocal cord paralysisRashid Al-Shahoumi, Lauren I Brady, Jeremy Schwartzentruber, et al.
Nucleic Acids Research|May 1, 2023
Screening for functional regulatory variants in open chromatin using GenIE-ATACSarah Cooper, Jeremy Schwartzentruber, Eve L Coomber, et al.
Nucleic Acids Research|November 5, 2020
Screening for functional transcriptional and splicing regulatory variants with GenIESarah E Cooper, Jeremy Schwartzentruber, Erica Bello, et al.
Plos One|December 11, 2013
Bridging the gap between single molecule and ensemble methods for measuring lateral dynamics in the plasma membraneEva C Arnspang, Jeremy Schwartzentruber, Mathias P Clausen, et al.
Ophthalmic Genetics|February 1, 2013
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North AmericaLance Doucette, Jane Green, Coleman Black, et al.
European Journal of Human Genetics : EJHG|March 16, 2017
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestationsAisha Nazli, Adeel Safdar, Ayesha Saleem, et al.
Pediatrics|January 16, 2013
Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapyDong-Anh Khuong-Quang, Jeremy Schwartzentruber, Mark Westerman, et al.
BMC Medical Genetics|May 1, 2015
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literaturePatrick Frosk, Bernard Chodirker, Louise Simard, et al.
Pageof 10