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Frontiers in Genetics
|
February 23, 2018
Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes
Paul Dunn, Cassie L Albury, Neven Maksemous, et al.
The Journal of Molecular Diagnostics : JMD
|
August 24, 2019
Variant Call Format-Diagnostic Annotation and Reporting Tool: A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data
Miles C Benton, Robert A Smith, Larisa M Haupt, et al.
Cells
|
October 31, 2020
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants
Heidi G Sutherland, Neven Maksemous, Cassie L Albury, et al.
Developmental Medicine and Child Neurology
|
January 28, 2016
Eye movement disorders are an early manifestation of CACNA1A mutations in children
Esther M Tantsis, Deepak Gill, Lyn Griffiths, et al.
Molecular Genetics and Genomics : MGG
|
March 9, 2020
Tiered analysis of whole-exome sequencing for epilepsy diagnosis
Paul J Dunn, Bridget H Maher, Cassie L Albury, et al.
Frontiers in Immunology
|
March 21, 2018
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case
Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, et al.
Molecular Neurobiology
|
February 14, 2023
Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes
Neven Maksemous, Aster V E Harder, Omar Ibrahim, et al.
Epilepsy Research
|
March 15, 2021
The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients
Thi Tuyet Dieu Ngo, Rodney A Lea, Neven Maksemous, et al.
Frontiers in Molecular Neuroscience
|
August 5, 2022
Investigation of <i>CACNA1I</i> Cav3.3 Dysfunction in Hemiplegic Migraine
Neven Maksemous, Claire D Blayney, Heidi G Sutherland, et al.
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of 3
Search research articles
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Showing results (21-30 of 29) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 29 results.
Frontiers in Genetics
|
February 23, 2018
Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes
Paul Dunn, Cassie L Albury, Neven Maksemous, et al.
The Journal of Molecular Diagnostics : JMD
|
August 24, 2019
Variant Call Format-Diagnostic Annotation and Reporting Tool: A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data
Miles C Benton, Robert A Smith, Larisa M Haupt, et al.
Cells
|
October 31, 2020
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants
Heidi G Sutherland, Neven Maksemous, Cassie L Albury, et al.
Developmental Medicine and Child Neurology
|
January 28, 2016
Eye movement disorders are an early manifestation of CACNA1A mutations in children
Esther M Tantsis, Deepak Gill, Lyn Griffiths, et al.
Molecular Genetics and Genomics : MGG
|
March 9, 2020
Tiered analysis of whole-exome sequencing for epilepsy diagnosis
Paul J Dunn, Bridget H Maher, Cassie L Albury, et al.
Frontiers in Immunology
|
March 21, 2018
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case
Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, et al.
Molecular Neurobiology
|
February 14, 2023
Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes
Neven Maksemous, Aster V E Harder, Omar Ibrahim, et al.
Epilepsy Research
|
March 15, 2021
The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients
Thi Tuyet Dieu Ngo, Rodney A Lea, Neven Maksemous, et al.
Frontiers in Molecular Neuroscience
|
August 5, 2022
Investigation of <i>CACNA1I</i> Cav3.3 Dysfunction in Hemiplegic Migraine
Neven Maksemous, Claire D Blayney, Heidi G Sutherland, et al.
Page
of 3