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Mark A Corbett

Showing results (21-30 of 68) with videos related to

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European Journal of Human Genetics : EJHG|April 19, 2021
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataractJohanna L Jones, Mark A Corbett, Elise Yeaman, et al.
Molecular Cell|May 21, 2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decayIvone G Bruno, Rachid Karam, Lulu Huang, et al.
NPJ Genomic Medicine|January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Human Molecular Genetics|October 19, 2018
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylationWujood Khayat, Anna Hackett, Marie Shaw, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
European Journal of Medical Genetics|June 13, 2017
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsMark A Corbett, Samantha J Turner, Alison Gardner, et al.
American Journal of Human Genetics|August 28, 2010
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Mark A Corbett, Melanie Bahlo, Lachlan Jolly, et al.
Plos Genetics|October 15, 2024
Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndromeHelen M McRae, Melody P Y Leong, Maria I Bergamasco, et al.
NPJ Genomic Medicine|December 20, 2018
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsyMark A Corbett, Clare L van Eyk, Dani L Webber, et al.
NPJ Genomic Medicine|June 25, 2019
Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsyMark A Corbett, Clare L van Eyk, Dani L Webber, et al.
Pageof 7

Showing results (21-30 of 68) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|April 19, 2021
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataractJohanna L Jones, Mark A Corbett, Elise Yeaman, et al.
Molecular Cell|May 21, 2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decayIvone G Bruno, Rachid Karam, Lulu Huang, et al.
NPJ Genomic Medicine|January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Human Molecular Genetics|October 19, 2018
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylationWujood Khayat, Anna Hackett, Marie Shaw, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
European Journal of Medical Genetics|June 13, 2017
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsMark A Corbett, Samantha J Turner, Alison Gardner, et al.
American Journal of Human Genetics|August 28, 2010
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Mark A Corbett, Melanie Bahlo, Lachlan Jolly, et al.
Plos Genetics|October 15, 2024
Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndromeHelen M McRae, Melody P Y Leong, Maria I Bergamasco, et al.
NPJ Genomic Medicine|December 20, 2018
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsyMark A Corbett, Clare L van Eyk, Dani L Webber, et al.
NPJ Genomic Medicine|June 25, 2019
Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsyMark A Corbett, Clare L van Eyk, Dani L Webber, et al.
Pageof 7