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Alison E Gardner

Showing results (11-20 of 19) with videos related to

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Human Mutation|April 13, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disabilityMichael J Field, Raman Kumar, Anna Hackett, et al.
Neurology|May 26, 2021
Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures PlusSarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
Human Mutation|June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsDuyen H Pham, Melissa R Pitman, Raman Kumar, et al.
Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.
American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.
Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
Nature Communications|February 8, 2024
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopmentRudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, et al.
NPJ Genomic Medicine|December 10, 2020
Missense variant contribution to USP9X-female syndromeLachlan A Jolly, Euan Parnell, Alison E Gardner, et al.
Nature Genetics|April 2, 2013
Mutations in DEPDC5 cause familial focal epilepsy with variable fociLeanne M Dibbens, Boukje de Vries, Simona Donatello, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Human Mutation|April 13, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disabilityMichael J Field, Raman Kumar, Anna Hackett, et al.
Neurology|May 26, 2021
Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures PlusSarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
Human Mutation|June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsDuyen H Pham, Melissa R Pitman, Raman Kumar, et al.
Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.
American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.
Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
Nature Communications|February 8, 2024
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopmentRudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, et al.
NPJ Genomic Medicine|December 10, 2020
Missense variant contribution to USP9X-female syndromeLachlan A Jolly, Euan Parnell, Alison E Gardner, et al.
Nature Genetics|April 2, 2013
Mutations in DEPDC5 cause familial focal epilepsy with variable fociLeanne M Dibbens, Boukje de Vries, Simona Donatello, et al.
Pageof 2