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Matthew A Lines

Showing results (11-20 of 37) with videos related to

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Iscience|August 3, 2023
Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregationHema Saranya Ilamathi, Sara Benhammouda, Amel Lounas, et al.
JIMD Reports|August 1, 2013
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 MutationMatthew A Lines, C Anthony Rupar, Jack W Rip, et al.
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.
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.
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.
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.
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 4

Showing results (11-20 of 37) with videos related to

Sort By:
Pageof 4
Iscience|August 3, 2023
Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregationHema Saranya Ilamathi, Sara Benhammouda, Amel Lounas, et al.
JIMD Reports|August 1, 2013
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 MutationMatthew A Lines, C Anthony Rupar, Jack W Rip, et al.
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.
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.
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.
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.
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 4