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Chloe Stutterd

Showing results (1-10 of 14) with videos related to

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Australian Family Physician|April 5, 2017
Advances in genomic testingSarah Donoghue, Lilian Downie, Chloe Stutterd
European Journal of Medical Genetics|June 9, 2018
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathwayChloe Stutterd, George McGillivray, Zornitza Stark, et al.
Cold Spring Harbor Molecular Case Studies|September 30, 2021
Somatic <i>IDH1</i> variant (p.R132C) in an adult male with Maffucci syndromeNatasha J Brown, Zimeng Ye, Chloe Stutterd, et al.
JIMD Reports|February 20, 2020
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter diseaseCarolyn Bursle, Eppie M Yiu, Alison Yeung, et al.
Annals of Clinical and Translational Neurology|January 4, 2018
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of <i>VAC14</i>Chloe Stutterd, Peter Diakumis, Melanie Bahlo, et al.
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysisTiong Yang Tan, Sebastian Lunke, Belinda Chong, et al.
Molecular Genetics and Metabolism|July 26, 2017
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsThais Armangue, Joseph J Orsini, Asako Takanohashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patientsAlison Yeung, Natalie B Tan, Tiong Y Tan, et al.
Human Mutation|August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reportingZimeng Ye, Sufang Lin, Xia Zhao, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Australian Family Physician|April 5, 2017
Advances in genomic testingSarah Donoghue, Lilian Downie, Chloe Stutterd
European Journal of Medical Genetics|June 9, 2018
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathwayChloe Stutterd, George McGillivray, Zornitza Stark, et al.
Cold Spring Harbor Molecular Case Studies|September 30, 2021
Somatic <i>IDH1</i> variant (p.R132C) in an adult male with Maffucci syndromeNatasha J Brown, Zimeng Ye, Chloe Stutterd, et al.
JIMD Reports|February 20, 2020
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter diseaseCarolyn Bursle, Eppie M Yiu, Alison Yeung, et al.
Annals of Clinical and Translational Neurology|January 4, 2018
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of <i>VAC14</i>Chloe Stutterd, Peter Diakumis, Melanie Bahlo, et al.
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysisTiong Yang Tan, Sebastian Lunke, Belinda Chong, et al.
Molecular Genetics and Metabolism|July 26, 2017
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsThais Armangue, Joseph J Orsini, Asako Takanohashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patientsAlison Yeung, Natalie B Tan, Tiong Y Tan, et al.
Human Mutation|August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reportingZimeng Ye, Sufang Lin, Xia Zhao, et al.
Pageof 2