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Autoimmune Diseases
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July 13, 2011
Multiple sclerosis
Sreeram Ramagopalan, David Dyment, Rachel Farrell, et al.
American Journal of Medical Genetics. Part A
|
June 21, 2023
Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder
Alexandre White-Brown, Sanaa Choufani, , et al.
Frontiers in Cell and Developmental Biology
|
January 2, 2023
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature
Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
August 24, 2017
Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2-related neonatal epileptic encephalopathy
Sarah Grace Buttle, Erick Sell, David Dyment, et al.
Genome
|
December 10, 2003
Different patterns of gene silencing in position-effect variegation
Vett K Lloyd, David Dyment, Donald A R Sinclair, et al.
Brain : a Journal of Neurology
|
February 15, 2018
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot
Cas Simons, David Dyment, Marjo S van der Knaap, et al.
Child Neurology Open
|
August 29, 2018
Atypical Rett Syndrome and Intractable Epilepsy With Novel <i>GRIN2B</i> Mutation
Paulina Kyriakopoulos, Vanda McNiven, Melissa T Carter, et al.
Journal of Genetic Counseling
|
February 3, 2026
The personal utility of genetic testing in children with epilepsy
Sneha Gupta, Heather Leduc-Pessah, Nick Barrowman, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
November 14, 2018
Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada
Puneet Jain, Danielle Andrade, Elizabeth Donner, et al.
JIMD Reports
|
September 26, 2015
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion
Ghadi Antoun, Skye McBride, Jason R Vanstone, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 33) with videos related to
Sort By:
Page
of 4
Autoimmune Diseases
|
July 13, 2011
Multiple sclerosis
Sreeram Ramagopalan, David Dyment, Rachel Farrell, et al.
American Journal of Medical Genetics. Part A
|
June 21, 2023
Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder
Alexandre White-Brown, Sanaa Choufani, , et al.
Frontiers in Cell and Developmental Biology
|
January 2, 2023
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature
Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
August 24, 2017
Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2-related neonatal epileptic encephalopathy
Sarah Grace Buttle, Erick Sell, David Dyment, et al.
Genome
|
December 10, 2003
Different patterns of gene silencing in position-effect variegation
Vett K Lloyd, David Dyment, Donald A R Sinclair, et al.
Brain : a Journal of Neurology
|
February 15, 2018
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot
Cas Simons, David Dyment, Marjo S van der Knaap, et al.
Child Neurology Open
|
August 29, 2018
Atypical Rett Syndrome and Intractable Epilepsy With Novel <i>GRIN2B</i> Mutation
Paulina Kyriakopoulos, Vanda McNiven, Melissa T Carter, et al.
Journal of Genetic Counseling
|
February 3, 2026
The personal utility of genetic testing in children with epilepsy
Sneha Gupta, Heather Leduc-Pessah, Nick Barrowman, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
November 14, 2018
Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada
Puneet Jain, Danielle Andrade, Elizabeth Donner, et al.
JIMD Reports
|
September 26, 2015
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion
Ghadi Antoun, Skye McBride, Jason R Vanstone, et al.
Page
of 4