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Michael A Simpson

Showing results (21-30 of 168) with videos related to

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Clinical Dysmorphology|May 11, 2010
Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinentGurpreet Singh Kochar, Anita Choudhary, Ankur Gadodia, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|July 31, 2013
Next generation diagnostics of heritable connective tissue disordersAmr Salam, Michael A Simpson, Kristina L Stone, et al.
Human Mutation|September 24, 2015
Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic DiseaseNick Dand, Reiner Schulz, Michael E Weale, et al.
Circulation. Genomic and Precision Medicine|December 24, 2021
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac DeathRaquel Neves, David J Tester, Michael A Simpson, et al.
Journal of Dermatological Science|July 15, 2015
Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosisTakuya Takeichi, Kazumitsu Sugiura, Chao-Kai Hsu, et al.
American Journal of Human Genetics|October 18, 2003
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementiaMichael A Simpson, Harold Cross, Christos Proukakis, et al.
British Journal of Cancer|January 10, 2018
MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumoursDiego A Garcia-Dios, Dina Levi, Vandna Shah, et al.
The British Journal of Dermatology|December 11, 2025
The Skin Genetics ConsortiumLynn Petukhova, Nick Dand, Katie Watts, et al.
Circulation|June 20, 2018
Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case SeriesGarrett W Shanks, David J Tester, Jaeger P Ackerman, et al.
Acta Dermato-Venereologica|December 4, 2015
Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction FunctionTakuya Takeichi, Kazumitsu Sugiura, Chao-Kai Hsu, et al.
Pageof 17

Showing results (21-30 of 168) with videos related to

Sort By:
Pageof 17
Clinical Dysmorphology|May 11, 2010
Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinentGurpreet Singh Kochar, Anita Choudhary, Ankur Gadodia, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|July 31, 2013
Next generation diagnostics of heritable connective tissue disordersAmr Salam, Michael A Simpson, Kristina L Stone, et al.
Human Mutation|September 24, 2015
Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic DiseaseNick Dand, Reiner Schulz, Michael E Weale, et al.
Circulation. Genomic and Precision Medicine|December 24, 2021
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac DeathRaquel Neves, David J Tester, Michael A Simpson, et al.
Journal of Dermatological Science|July 15, 2015
Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosisTakuya Takeichi, Kazumitsu Sugiura, Chao-Kai Hsu, et al.
American Journal of Human Genetics|October 18, 2003
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementiaMichael A Simpson, Harold Cross, Christos Proukakis, et al.
British Journal of Cancer|January 10, 2018
MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumoursDiego A Garcia-Dios, Dina Levi, Vandna Shah, et al.
The British Journal of Dermatology|December 11, 2025
The Skin Genetics ConsortiumLynn Petukhova, Nick Dand, Katie Watts, et al.
Circulation|June 20, 2018
Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case SeriesGarrett W Shanks, David J Tester, Jaeger P Ackerman, et al.
Acta Dermato-Venereologica|December 4, 2015
Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction FunctionTakuya Takeichi, Kazumitsu Sugiura, Chao-Kai Hsu, et al.
Pageof 17