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American Journal of Human Genetics
|
August 21, 2024
Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias
Colin A Ellis, Karen L Oliver, Rebekah V Harris, et al.
Epilepsia
|
May 13, 2024
Familial aggregation of seizure outcomes in four familial epilepsy cohorts
Colin A Ellis, Danni Tu, Karen L Oliver, et al.
Molecular Autism
|
October 5, 2013
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
Brett S Abrahams, Dan E Arking, Daniel B Campbell, et al.
Nucleic Acids Research
|
June 28, 2002
Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry
Melanie P Gygi, Mark D Ferguson, Heather C Mefford, et al.
Genome Research
|
June 10, 2009
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
Heather C Mefford, Gregory M Cooper, Troy Zerr, et al.
Neurology
|
September 27, 2013
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
Saul A Mullen, Gemma L Carvill, Susannah Bellows, et al.
Epilepsia Open
|
December 22, 2023
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report
Denis M Nyaga, Michael S Hildebrand, Guillem de Valles-Ibáñez, et al.
Clinical Genetics
|
December 29, 2019
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene
Camille Desprairies, Stéphanie Valence, Hélène Maurey, et al.
Epilepsia
|
February 19, 2015
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis
Corinna Hartmann, Sarah von Spiczak, Arvid Suls, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 14, 2016
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies
Meng-Han Tsai, Pei-Wen Kuo, Candace T Myers, et al.
Page
of 23
Search research articles
Search
Showing results (61-70 of 222) with videos related to
Sort By:
Page
of 23
American Journal of Human Genetics
|
August 21, 2024
Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias
Colin A Ellis, Karen L Oliver, Rebekah V Harris, et al.
Epilepsia
|
May 13, 2024
Familial aggregation of seizure outcomes in four familial epilepsy cohorts
Colin A Ellis, Danni Tu, Karen L Oliver, et al.
Molecular Autism
|
October 5, 2013
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
Brett S Abrahams, Dan E Arking, Daniel B Campbell, et al.
Nucleic Acids Research
|
June 28, 2002
Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry
Melanie P Gygi, Mark D Ferguson, Heather C Mefford, et al.
Genome Research
|
June 10, 2009
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
Heather C Mefford, Gregory M Cooper, Troy Zerr, et al.
Neurology
|
September 27, 2013
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
Saul A Mullen, Gemma L Carvill, Susannah Bellows, et al.
Epilepsia Open
|
December 22, 2023
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report
Denis M Nyaga, Michael S Hildebrand, Guillem de Valles-Ibáñez, et al.
Clinical Genetics
|
December 29, 2019
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene
Camille Desprairies, Stéphanie Valence, Hélène Maurey, et al.
Epilepsia
|
February 19, 2015
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis
Corinna Hartmann, Sarah von Spiczak, Arvid Suls, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 14, 2016
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies
Meng-Han Tsai, Pei-Wen Kuo, Candace T Myers, et al.
Page
of 23