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Elizabeth M Thompson

Showing results (11-20 of 32) with videos related to

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BMC Neurology|August 30, 2008
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9Agnes A Luty, John B J Kwok, Elizabeth M Thompson, et al.
American Journal of Medical Genetics. Part A|May 13, 2005
Unstable Robertsonian translocations der(13;15)(q10;q10): heritable chromosome fission without phenotypic effect in two kindredsJo Perry, Sue M White, Sara Nouri, et al.
Neuromuscular Disorders : NMD|December 11, 2012
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutationsGianina Ravenscroft, Elizabeth M Thompson, Emily J Todd, et al.
Clinical Genetics|November 9, 2022
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determinationBrittany Croft, Anthony D Bird, Makoto Ono, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 28, 2012
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, Shanna Suwalski, et al.
Acta Neuropathologica|January 23, 2013
Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysisCarol Dobson-Stone, Agnes A Luty, Elizabeth M Thompson, et al.
Plos One|February 26, 2013
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsCarol Dobson-Stone, Marianne Hallupp, Clement T Loy, et al.
Pathology|December 5, 2013
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, John C Mulley, et al.
Human Mutation|October 14, 2017
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex developmentGorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, et al.
Journal of Medical Genetics|April 19, 2014
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephalyKelly A Bear, Benjamin D Solomon, Sonir Antonini, et al.
Pageof 4

Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
BMC Neurology|August 30, 2008
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9Agnes A Luty, John B J Kwok, Elizabeth M Thompson, et al.
American Journal of Medical Genetics. Part A|May 13, 2005
Unstable Robertsonian translocations der(13;15)(q10;q10): heritable chromosome fission without phenotypic effect in two kindredsJo Perry, Sue M White, Sara Nouri, et al.
Neuromuscular Disorders : NMD|December 11, 2012
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutationsGianina Ravenscroft, Elizabeth M Thompson, Emily J Todd, et al.
Clinical Genetics|November 9, 2022
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determinationBrittany Croft, Anthony D Bird, Makoto Ono, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 28, 2012
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, Shanna Suwalski, et al.
Acta Neuropathologica|January 23, 2013
Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysisCarol Dobson-Stone, Agnes A Luty, Elizabeth M Thompson, et al.
Plos One|February 26, 2013
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsCarol Dobson-Stone, Marianne Hallupp, Clement T Loy, et al.
Pathology|December 5, 2013
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, John C Mulley, et al.
Human Mutation|October 14, 2017
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex developmentGorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, et al.
Journal of Medical Genetics|April 19, 2014
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephalyKelly A Bear, Benjamin D Solomon, Sonir Antonini, et al.
Pageof 4