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Cheryl Shoubridge

Showing results (11-20 of 51) with videos related to

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Human Molecular Genetics|October 15, 2013
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulationKristie Lee, Tessa Mattiske, Kunio Kitamura, et al.
Genomics|May 11, 2007
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox geneCheryl Shoubridge, Desiree Cloosterman, Emma Parkinson-Lawerence, et al.
BMJ Open|November 29, 2024
Health Navigator intervention to address the unmet social needs of populations living with cancer attending outpatient treatment at a major metropolitan hospital in Australia: protocol for a mixed-methods feasibility trialKate Neadley, Annabel Smith, Sean Martin, et al.
European Journal of Human Genetics : EJHG|April 12, 2012
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?Cheryl Shoubridge, Alison Gardner, Charles E Schwartz, et al.
Clinical Genetics|March 29, 2022
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domainCheryl Shoubridge, Tracy Dudding-Byth, Laurent Pasquier, et al.
American Journal of Preventive Medicine|March 28, 2025
Hospital-Based Interventions Addressing Social Needs: A Systematic Narrative ReviewKate E Neadley, Cheryl Shoubridge, John W Lynch, et al.
Gene Expression Patterns : GEP|August 19, 2007
Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesityAnne K Voss, Robin Gamble, Caitlin Collin, et al.
Human Mutation|February 3, 2017
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARXTessa Mattiske, Ching Moey, Lisenka E Vissers, et al.
Pilot and Feasibility Studies|September 27, 2025
A Health Navigator intervention to address the unmet social needs of caregivers of hospitalised children in South Australia: protocol for a mixed-methods pilot studyKate Emily Neadley, Maeve Downes, Lily Chan, et al.
European Journal of Human Genetics : EJHG|August 27, 2015
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARXChing Moey, Scott Topper, Mary Karn, et al.
Pageof 6

Showing results (11-20 of 51) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|October 15, 2013
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulationKristie Lee, Tessa Mattiske, Kunio Kitamura, et al.
Genomics|May 11, 2007
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox geneCheryl Shoubridge, Desiree Cloosterman, Emma Parkinson-Lawerence, et al.
BMJ Open|November 29, 2024
Health Navigator intervention to address the unmet social needs of populations living with cancer attending outpatient treatment at a major metropolitan hospital in Australia: protocol for a mixed-methods feasibility trialKate Neadley, Annabel Smith, Sean Martin, et al.
European Journal of Human Genetics : EJHG|April 12, 2012
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?Cheryl Shoubridge, Alison Gardner, Charles E Schwartz, et al.
Clinical Genetics|March 29, 2022
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domainCheryl Shoubridge, Tracy Dudding-Byth, Laurent Pasquier, et al.
American Journal of Preventive Medicine|March 28, 2025
Hospital-Based Interventions Addressing Social Needs: A Systematic Narrative ReviewKate E Neadley, Cheryl Shoubridge, John W Lynch, et al.
Gene Expression Patterns : GEP|August 19, 2007
Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesityAnne K Voss, Robin Gamble, Caitlin Collin, et al.
Human Mutation|February 3, 2017
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARXTessa Mattiske, Ching Moey, Lisenka E Vissers, et al.
Pilot and Feasibility Studies|September 27, 2025
A Health Navigator intervention to address the unmet social needs of caregivers of hospitalised children in South Australia: protocol for a mixed-methods pilot studyKate Emily Neadley, Maeve Downes, Lily Chan, et al.
European Journal of Human Genetics : EJHG|August 27, 2015
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARXChing Moey, Scott Topper, Mary Karn, et al.
Pageof 6