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Jacek Majewski

Showing results (161-170 of 333) with videos related to

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Journal of Child Neurology|October 22, 2014
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human DiseaseHugh J McMillan, Peter Humphreys, Amanda Smith, et al.
Brain : a Journal of Neurology|December 15, 2015
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCAKarine Choquet, Olga Zurita-Rendón, Roberta La Piana, et al.
Neurogenetics|January 7, 2017
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotypeRoberta La Piana, Woranontee Weraarpachai, Luis H Ospina, et al.
Investigative Ophthalmology & Visual Science|November 24, 2006
Expanded genome scan in extended families with age-related macular degenerationSandra Barral, Peter J Francis, Dennis W Schultz, et al.
Journal of Immunology (Baltimore, Md. : 1950)|November 29, 2013
Altered IFN-γ-mediated immunity and transcriptional expression patterns in N-Ethyl-N-nitrosourea-induced STAT4 mutants confer susceptibility to acute typhoid-like diseaseMegan M Eva, Kyoko E Yuki, Shauna M Dauphinee, et al.
American Journal of Human Genetics|August 6, 2003
Age-related macular degeneration--a genome scan in extended familiesJacek Majewski, Dennis W Schultz, Richard G Weleber, et al.
Journal of Medical Genetics|July 26, 2011
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotypeAhmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, et al.
Neurobiology of Aging|October 16, 2014
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathologyDavid A Dyment, Amanda C Smith, Peter Humphreys, et al.
Pediatric Blood & Cancer|May 17, 2017
H3.1 K36M mutation in a congenital-onset soft tissue neoplasmKristin D Kernohan, David Grynspan, Raveena Ramphal, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple eventsChristine M Armour, Amanda Smith, Taila Hartley, et al.
Pageof 34

Showing results (161-170 of 333) with videos related to

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Pageof 34
Journal of Child Neurology|October 22, 2014
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human DiseaseHugh J McMillan, Peter Humphreys, Amanda Smith, et al.
Brain : a Journal of Neurology|December 15, 2015
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCAKarine Choquet, Olga Zurita-Rendón, Roberta La Piana, et al.
Neurogenetics|January 7, 2017
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotypeRoberta La Piana, Woranontee Weraarpachai, Luis H Ospina, et al.
Investigative Ophthalmology & Visual Science|November 24, 2006
Expanded genome scan in extended families with age-related macular degenerationSandra Barral, Peter J Francis, Dennis W Schultz, et al.
Journal of Immunology (Baltimore, Md. : 1950)|November 29, 2013
Altered IFN-γ-mediated immunity and transcriptional expression patterns in N-Ethyl-N-nitrosourea-induced STAT4 mutants confer susceptibility to acute typhoid-like diseaseMegan M Eva, Kyoko E Yuki, Shauna M Dauphinee, et al.
American Journal of Human Genetics|August 6, 2003
Age-related macular degeneration--a genome scan in extended familiesJacek Majewski, Dennis W Schultz, Richard G Weleber, et al.
Journal of Medical Genetics|July 26, 2011
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotypeAhmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, et al.
Neurobiology of Aging|October 16, 2014
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathologyDavid A Dyment, Amanda C Smith, Peter Humphreys, et al.
Pediatric Blood & Cancer|May 17, 2017
H3.1 K36M mutation in a congenital-onset soft tissue neoplasmKristin D Kernohan, David Grynspan, Raveena Ramphal, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple eventsChristine M Armour, Amanda Smith, Taila Hartley, et al.
Pageof 34