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Showing results (41-50 of 67) with videos related to

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CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|December 3, 2014
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutationJulien L Marcadier, Margaret Boland, C Ronald Scott, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 21, 2017
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndromeTugce B Balci, Jorge Davila, Denice Lewis, et al.
Investigative Ophthalmology & Visual Science|February 27, 2004
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformationsMatthew A Lines, Kathy Kozlowski, Stephen C Kulak, et al.
The Journal of Experimental Medicine|December 4, 2002
HLA-E-dependent presentation of Mtb-derived antigen to human CD8+ T cellsAmy S Heinzel, Jeff E Grotzke, Rebecca A Lines, et al.
European Journal of Human Genetics : EJHG|July 7, 2019
De novo substitutions of TRPM3 cause intellectual disability and epilepsyDavid A Dyment, Paulien A Terhal, Cecilie F Rustad, et al.
JIMD Reports|September 26, 2015
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA DepletionGhadi Antoun, Skye McBride, Jason R Vanstone, et al.
Human Molecular Genetics|February 18, 2021
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53Marie-Claude Beauchamp, Anissa Djedid, Eric Bareke, et al.
Microbes and Infection|September 6, 2006
High resolution radiographic and fine immunologic definition of TB disease progression in the rhesus macaqueDavid M Lewinsohn, Ian S Tydeman, Marisa Frieder, et al.
Neurology|February 21, 2014
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencingMatthew A Lines, Rebekah Jobling, Lauren Brady, et al.
European Journal of Human Genetics : EJHG|September 6, 2021
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiencyMatthew A Lines, Alexanne Cuillerier, Pranesh Chakraborty, et al.
Pageof 7

Showing results (41-50 of 67) with videos related to

Sort By:
Pageof 7
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|December 3, 2014
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutationJulien L Marcadier, Margaret Boland, C Ronald Scott, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 21, 2017
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndromeTugce B Balci, Jorge Davila, Denice Lewis, et al.
Investigative Ophthalmology & Visual Science|February 27, 2004
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformationsMatthew A Lines, Kathy Kozlowski, Stephen C Kulak, et al.
The Journal of Experimental Medicine|December 4, 2002
HLA-E-dependent presentation of Mtb-derived antigen to human CD8+ T cellsAmy S Heinzel, Jeff E Grotzke, Rebecca A Lines, et al.
European Journal of Human Genetics : EJHG|July 7, 2019
De novo substitutions of TRPM3 cause intellectual disability and epilepsyDavid A Dyment, Paulien A Terhal, Cecilie F Rustad, et al.
JIMD Reports|September 26, 2015
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA DepletionGhadi Antoun, Skye McBride, Jason R Vanstone, et al.
Human Molecular Genetics|February 18, 2021
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53Marie-Claude Beauchamp, Anissa Djedid, Eric Bareke, et al.
Microbes and Infection|September 6, 2006
High resolution radiographic and fine immunologic definition of TB disease progression in the rhesus macaqueDavid M Lewinsohn, Ian S Tydeman, Marisa Frieder, et al.
Neurology|February 21, 2014
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencingMatthew A Lines, Rebekah Jobling, Lauren Brady, et al.
European Journal of Human Genetics : EJHG|September 6, 2021
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiencyMatthew A Lines, Alexanne Cuillerier, Pranesh Chakraborty, et al.
Pageof 7