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Jacek Majewski

Showing results (191-200 of 333) with videos related to

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EMBO Molecular Medicine|July 9, 2016
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndromeAlexandre Janer, Julien Prudent, Vincent Paupe, et al.
Journal of Neuropathology and Experimental Neurology|October 8, 2014
Neuropathologic features of pontocerebellar hypoplasia type 6Jeffrey T Joseph, A Micheil Innes, Amanda C Smith, et al.
American Journal of Human Genetics|October 5, 2010
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndromeNatascia Anastasio, Tawfeg Ben-Omran, Ahmad Teebi, et al.
Clinical Genetics|August 13, 2023
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variantMilla-Riikka Hautakangas, Paula Widgren, Paavo Korpelainen, et al.
International Journal of Cardiology|March 21, 2015
Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardiaYanwei Xi, Christina Honeywell, Dapeng Zhang, et al.
Cell Reports|March 11, 2015
Loss-of-Function Mutation in APC2 Causes Sotos Syndrome FeaturesMariam Almuriekhi, Takafumi Shintani, Somayyeh Fahiminiya, 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.
Genome Research|August 3, 2007
Heritability of alternative splicing in the human genomeTony Kwan, David Benovoy, Christel Dias, et al.
American Journal of Medical Genetics. Part A|October 20, 2015
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACEJulie Richer, Hussein Daoud, Pavel Geier, et al.
Orphanet Journal of Rare Diseases|July 10, 2013
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaJulien L Marcadier, Amanda M Smith, Daniela Pohl, et al.
Pageof 34

Showing results (191-200 of 333) with videos related to

Sort By:
Pageof 34
EMBO Molecular Medicine|July 9, 2016
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndromeAlexandre Janer, Julien Prudent, Vincent Paupe, et al.
Journal of Neuropathology and Experimental Neurology|October 8, 2014
Neuropathologic features of pontocerebellar hypoplasia type 6Jeffrey T Joseph, A Micheil Innes, Amanda C Smith, et al.
American Journal of Human Genetics|October 5, 2010
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndromeNatascia Anastasio, Tawfeg Ben-Omran, Ahmad Teebi, et al.
Clinical Genetics|August 13, 2023
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variantMilla-Riikka Hautakangas, Paula Widgren, Paavo Korpelainen, et al.
International Journal of Cardiology|March 21, 2015
Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardiaYanwei Xi, Christina Honeywell, Dapeng Zhang, et al.
Cell Reports|March 11, 2015
Loss-of-Function Mutation in APC2 Causes Sotos Syndrome FeaturesMariam Almuriekhi, Takafumi Shintani, Somayyeh Fahiminiya, 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.
Genome Research|August 3, 2007
Heritability of alternative splicing in the human genomeTony Kwan, David Benovoy, Christel Dias, et al.
American Journal of Medical Genetics. Part A|October 20, 2015
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACEJulie Richer, Hussein Daoud, Pavel Geier, et al.
Orphanet Journal of Rare Diseases|July 10, 2013
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaJulien L Marcadier, Amanda M Smith, Daniela Pohl, et al.
Pageof 34