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Mark A Corbett

Showing results (41-50 of 68) 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.
Human Molecular Genetics|December 16, 2014
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
American Journal of Human Genetics|July 31, 2012
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangementsGuy Froyen, Stefanie Belet, Francisco Martinez, 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.
Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.
Blood|February 14, 2019
PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemiaHelen M McRae, Alexandra L Garnham, Yifang Hu, et al.
Pageof 7

Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
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.
Human Molecular Genetics|December 16, 2014
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
American Journal of Human Genetics|July 31, 2012
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangementsGuy Froyen, Stefanie Belet, Francisco Martinez, 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.
Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.
Blood|February 14, 2019
PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemiaHelen M McRae, Alexandra L Garnham, Yifang Hu, et al.
Pageof 7