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Stephen R F Twigg

Showing results (1-10 of 68) with videos related to

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Human Molecular Genetics|June 19, 2015
New insights into craniofacial malformationsStephen R F Twigg, Andrew O M Wilkie
American Journal of Human Genetics|September 5, 2015
A Genetic-Pathophysiological Framework for CraniosynostosisStephen R F Twigg, Andrew O M Wilkie
Mammalian Genome : Official Journal of the International Mammalian Genome Society|March 18, 2025
The power of mouse models in the diagnostic odyssey of patients with rare congenital anomaliesStephen R F Twigg, Nicholas D E Greene, Deborah J Henderson, et al.
Genes|March 29, 2023
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene PanelsRebecca S Tooze, Eduardo Calpena, Astrid Weber, et al.
Journal of Medical Genetics|December 21, 2022
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of <i>SPRY1</i> (sprouty homolog 1) functionRebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, et al.
Human Molecular Genetics|September 27, 2008
Hearing loss in a mouse model of Muenke syndromeSuzanne L Mansour, Stephen R F Twigg, Rowena M Freeland, et al.
Human Mutation|May 10, 2005
Functional analysis of natural mutations in two TWIST protein motifsNoriko Funato, Stephen R F Twigg, Norihisa Higashihori, et al.
Nature Genetics|July 15, 2014
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applicationsAndy Rimmer, Hang Phan, Iain Mathieson, et al.
American Journal of Medical Genetics. Part A|April 8, 2017
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newbornKristen Wigby, Stephen R F Twigg, Ryan Broderick, et al.
European Journal of Human Genetics : EJHG|April 28, 2006
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic herniaPradeep C Vasudevan, Stephen R F Twigg, John B Mulliken, et al.
Pageof 7

Showing results (1-10 of 68) with videos related to

Sort By:
Pageof 7
Human Molecular Genetics|June 19, 2015
New insights into craniofacial malformationsStephen R F Twigg, Andrew O M Wilkie
American Journal of Human Genetics|September 5, 2015
A Genetic-Pathophysiological Framework for CraniosynostosisStephen R F Twigg, Andrew O M Wilkie
Mammalian Genome : Official Journal of the International Mammalian Genome Society|March 18, 2025
The power of mouse models in the diagnostic odyssey of patients with rare congenital anomaliesStephen R F Twigg, Nicholas D E Greene, Deborah J Henderson, et al.
Genes|March 29, 2023
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene PanelsRebecca S Tooze, Eduardo Calpena, Astrid Weber, et al.
Journal of Medical Genetics|December 21, 2022
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of <i>SPRY1</i> (sprouty homolog 1) functionRebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, et al.
Human Molecular Genetics|September 27, 2008
Hearing loss in a mouse model of Muenke syndromeSuzanne L Mansour, Stephen R F Twigg, Rowena M Freeland, et al.
Human Mutation|May 10, 2005
Functional analysis of natural mutations in two TWIST protein motifsNoriko Funato, Stephen R F Twigg, Norihisa Higashihori, et al.
Nature Genetics|July 15, 2014
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applicationsAndy Rimmer, Hang Phan, Iain Mathieson, et al.
American Journal of Medical Genetics. Part A|April 8, 2017
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newbornKristen Wigby, Stephen R F Twigg, Ryan Broderick, et al.
European Journal of Human Genetics : EJHG|April 28, 2006
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic herniaPradeep C Vasudevan, Stephen R F Twigg, John B Mulliken, et al.
Pageof 7