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S Bicknell

Showing results (21-30 of 58) with videos related to

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The American Journal of Emergency Medicine|November 1, 1988
Effect on biochemical markers of brain injury of therapy with deferoxamine or superoxide dismutase following cardiac arrestB C White, N R Nayini, G S Krause, et al.
The Journal of Biological Chemistry|April 26, 2011
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensationJustin W Leung, Andrea Leitch, Jamie L Wood, et al.
American Journal of Medical Genetics. Part A|November 8, 2023
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephalyBridget J Fellows, Giovanna Cantini Tolezano, Sara Ferreira Pires, et al.
Journal of Human Genetics|April 22, 2020
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disabilityKaren M Knapp, Rebecca Luu, Melissa Baerenfaenger, et al.
Journal of Medical Genetics|July 5, 2005
Mutations in FLNB cause boomerang dysplasiaL S Bicknell, T Morgan, L Bonafé, et al.
Wellcome Open Research|February 2, 2018
Rare variants of the 3'-5' DNA exonuclease <i>TREX1</i> in early onset small vessel strokeSarah McGlasson, Kristiina Rannikmäe, Steven Bevan, et al.
Journal of Medical Genetics|December 1, 2019
Linked-read genome sequencing identifies biallelic pathogenic variants in <i>DONSON</i> as a novel cause of Meier-Gorlin syndromeKaren M Knapp, Rosie Sullivan, Jennie Murray, et al.
Nature|September 3, 2013
Cerebral organoids model human brain development and microcephalyMadeline A Lancaster, Magdalena Renner, Carol-Anne Martin, et al.
Nature Genetics|March 2, 2011
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndromeLouise S Bicknell, Sarah Walker, Anna Klingseisen, et al.
European Journal of Human Genetics : EJHG|March 3, 2021
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiencyKaren M Knapp, Danielle E Jenkins, Rosie Sullivan, et al.
Pageof 6

Showing results (21-30 of 58) with videos related to

Sort By:
Pageof 6
The American Journal of Emergency Medicine|November 1, 1988
Effect on biochemical markers of brain injury of therapy with deferoxamine or superoxide dismutase following cardiac arrestB C White, N R Nayini, G S Krause, et al.
The Journal of Biological Chemistry|April 26, 2011
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensationJustin W Leung, Andrea Leitch, Jamie L Wood, et al.
American Journal of Medical Genetics. Part A|November 8, 2023
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephalyBridget J Fellows, Giovanna Cantini Tolezano, Sara Ferreira Pires, et al.
Journal of Human Genetics|April 22, 2020
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disabilityKaren M Knapp, Rebecca Luu, Melissa Baerenfaenger, et al.
Journal of Medical Genetics|July 5, 2005
Mutations in FLNB cause boomerang dysplasiaL S Bicknell, T Morgan, L Bonafé, et al.
Wellcome Open Research|February 2, 2018
Rare variants of the 3'-5' DNA exonuclease <i>TREX1</i> in early onset small vessel strokeSarah McGlasson, Kristiina Rannikmäe, Steven Bevan, et al.
Journal of Medical Genetics|December 1, 2019
Linked-read genome sequencing identifies biallelic pathogenic variants in <i>DONSON</i> as a novel cause of Meier-Gorlin syndromeKaren M Knapp, Rosie Sullivan, Jennie Murray, et al.
Nature|September 3, 2013
Cerebral organoids model human brain development and microcephalyMadeline A Lancaster, Magdalena Renner, Carol-Anne Martin, et al.
Nature Genetics|March 2, 2011
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndromeLouise S Bicknell, Sarah Walker, Anna Klingseisen, et al.
European Journal of Human Genetics : EJHG|March 3, 2021
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiencyKaren M Knapp, Danielle E Jenkins, Rosie Sullivan, et al.
Pageof 6