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David Mowat

Showing results (61-70 of 83) with videos related to

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Nature Genetics|April 28, 2015
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndromeFanny Kortüm, Viviana Caputo, Christiane K Bauer, et al.
Molecular Genetics & Genomic Medicine|January 10, 2018
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessElizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, et al.
The Journal of Molecular Diagnostics : JMD|May 7, 2021
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and EfficiencySamantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, et al.
Neurology|February 11, 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic EncephalopathiesElizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Human Mutation|July 22, 2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen, Sarah De Jaegere, David Amor, et al.
Human Mutation|February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendationsEric Lee, Trang Le, Ying Zhu, et al.
Nature Communications|October 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorderMaggie M K Wong, Rosalie A Kampen, Ruth O Braden, et al.
Pageof 9

Showing results (61-70 of 83) with videos related to

Sort By:
Pageof 9
Nature Genetics|April 28, 2015
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndromeFanny Kortüm, Viviana Caputo, Christiane K Bauer, et al.
Molecular Genetics & Genomic Medicine|January 10, 2018
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessElizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, et al.
The Journal of Molecular Diagnostics : JMD|May 7, 2021
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and EfficiencySamantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, et al.
Neurology|February 11, 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic EncephalopathiesElizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Human Mutation|July 22, 2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen, Sarah De Jaegere, David Amor, et al.
Human Mutation|February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendationsEric Lee, Trang Le, Ying Zhu, et al.
Nature Communications|October 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorderMaggie M K Wong, Rosalie A Kampen, Ruth O Braden, et al.
Pageof 9