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Gareth Baynam

Showing results (61-70 of 178) with videos related to

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Molecular Autism|October 1, 2024
Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingNicole C Shaw, Kevin Chen, Kathryn O Farley, et al.
Developmental Medicine and Child Neurology|May 6, 2023
Prevalence and trends for Aboriginal and Torres Strait Islander children living with cerebral palsy: A birds-eye viewTanya Martin, Sarah McIntyre, Emma Waight, et al.
The Journal of Pediatrics|April 8, 2023
Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western AustraliaMohammed Junaid, Linda Slack-Smith, Kingsley Wong, et al.
HGG Advances|November 26, 2023
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionKathryn O Farley, Catherine A Forbes, Nicole C Shaw, et al.
BMC Medical Informatics and Decision Making|January 31, 2024
An evaluation of GPT models for phenotype concept recognitionTudor Groza, Harry Caufield, Dylan Gration, et al.
Molecular Genetics and Metabolism|November 25, 2015
Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needsDomenica Taruscio, Stephen C Groft, Helene Cederroth, et al.
Plos One|October 29, 2020
A community-based co-designed genetic health service model for Aboriginal AustraliansImogen Elsum, Libby Massey, Callum McEwan, et al.
American Journal of Medical Genetics. Part A|April 9, 2015
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoracesGareth Baynam, Angela Overkov, Mark Davis, et al.
Molecular Syndromology|March 30, 2018
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel SequencingBenjamin Kamien, Anne Ronan, Gemma Poke, et al.
European Journal of Pediatrics|April 14, 2025
Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal ageDavid J Cullingford, Mary B Abraham, Aris Siafarikas, et al.
Pageof 18

Showing results (61-70 of 178) with videos related to

Sort By:
Pageof 18
Molecular Autism|October 1, 2024
Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingNicole C Shaw, Kevin Chen, Kathryn O Farley, et al.
Developmental Medicine and Child Neurology|May 6, 2023
Prevalence and trends for Aboriginal and Torres Strait Islander children living with cerebral palsy: A birds-eye viewTanya Martin, Sarah McIntyre, Emma Waight, et al.
The Journal of Pediatrics|April 8, 2023
Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western AustraliaMohammed Junaid, Linda Slack-Smith, Kingsley Wong, et al.
HGG Advances|November 26, 2023
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionKathryn O Farley, Catherine A Forbes, Nicole C Shaw, et al.
BMC Medical Informatics and Decision Making|January 31, 2024
An evaluation of GPT models for phenotype concept recognitionTudor Groza, Harry Caufield, Dylan Gration, et al.
Molecular Genetics and Metabolism|November 25, 2015
Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needsDomenica Taruscio, Stephen C Groft, Helene Cederroth, et al.
Plos One|October 29, 2020
A community-based co-designed genetic health service model for Aboriginal AustraliansImogen Elsum, Libby Massey, Callum McEwan, et al.
American Journal of Medical Genetics. Part A|April 9, 2015
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoracesGareth Baynam, Angela Overkov, Mark Davis, et al.
Molecular Syndromology|March 30, 2018
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel SequencingBenjamin Kamien, Anne Ronan, Gemma Poke, et al.
European Journal of Pediatrics|April 14, 2025
Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal ageDavid J Cullingford, Mary B Abraham, Aris Siafarikas, et al.
Pageof 18