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Brain : a Journal of Neurology
|
April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
Annalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 14, 2023
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder
Cosima M Schmid, Anne Gregor, Gregory Costain, et al.
BMJ Open
|
September 4, 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations
Guylaine D'Amours, Marc Clausen, Stephanie Luca, et al.
Human Molecular Genetics
|
February 9, 2013
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
Anath C Lionel, Andrea K Vaags, Daisuke Sato, et al.
American Journal of Human Genetics
|
October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Zelha Nil, Ashish R Deshwar, Yan Huang, et al.
Genome Medicine
|
July 2, 2025
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
Jamie C Stark, Neta Pipko, Yijing Liang, et al.
Epilepsia
|
January 17, 2024
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
Sangeetha Yoganathan, Robyn Whitney, Maya Thomas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual framework
Michael P Mackley, Julie Richer, Andrea Guerin, et al.
The Lancet. Neurology
|
August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
Alissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
American Journal of Human Genetics
|
March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
David Cheerie, Margaret M Meserve, Danique Beijer, et al.
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of 15
Search research articles
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Showing results (111-120 of 144) with videos related to
Sort By:
Page
of 15
Brain : a Journal of Neurology
|
April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
Annalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 14, 2023
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder
Cosima M Schmid, Anne Gregor, Gregory Costain, et al.
BMJ Open
|
September 4, 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations
Guylaine D'Amours, Marc Clausen, Stephanie Luca, et al.
Human Molecular Genetics
|
February 9, 2013
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
Anath C Lionel, Andrea K Vaags, Daisuke Sato, et al.
American Journal of Human Genetics
|
October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Zelha Nil, Ashish R Deshwar, Yan Huang, et al.
Genome Medicine
|
July 2, 2025
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
Jamie C Stark, Neta Pipko, Yijing Liang, et al.
Epilepsia
|
January 17, 2024
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
Sangeetha Yoganathan, Robyn Whitney, Maya Thomas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual framework
Michael P Mackley, Julie Richer, Andrea Guerin, et al.
The Lancet. Neurology
|
August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
Alissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
American Journal of Human Genetics
|
March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
David Cheerie, Margaret M Meserve, Danique Beijer, et al.
Page
of 15