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Michael A Simpson

Showing results (101-110 of 168) with videos related to

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Journal of Inherited Metabolic Disease|October 4, 2016
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduriaMonika Oláhová, Kyle Thompson, Steven A Hardy, et al.
The Journal of Investigative Dermatology|January 11, 2013
Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypesNiovi Setta-Kaffetzi, Alexander A Navarini, Varsha M Patel, et al.
The Journal of Investigative Dermatology|September 8, 2019
Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple DermatofibromasChavalit Supsrisunjai, Chao-Kai Hsu, Magdalene Michael, et al.
Nature Genetics|September 6, 2011
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)Pia Ostergaard, Michael A Simpson, Fiona C Connell, et al.
American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, et al.
The New England Journal of Medicine|January 21, 2016
Assessment of Minimal Residual Disease in Standard-Risk AMLAdam Ivey, Robert K Hills, Michael A Simpson, et al.
Journal of the American Heart Association|November 24, 2021
Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected DeathC Anwar A Chahal, David J Tester, Ahmed U Fayyaz, et al.
Human Molecular Genetics|January 10, 2013
Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencingHung-Fat Tse, Jenny C Y Ho, Shing-Wan Choi, et al.
Nature Communications|April 25, 2019
Sequencing of human genomes with nanopore technologyRory Bowden, Robert W Davies, Andreas Heger, et al.
Nature Genetics|March 8, 2011
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossMichael A Simpson, Melita D Irving, Esra Asilmaz, et al.
Pageof 17

Showing results (101-110 of 168) with videos related to

Sort By:
Pageof 17
Journal of Inherited Metabolic Disease|October 4, 2016
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduriaMonika Oláhová, Kyle Thompson, Steven A Hardy, et al.
The Journal of Investigative Dermatology|January 11, 2013
Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypesNiovi Setta-Kaffetzi, Alexander A Navarini, Varsha M Patel, et al.
The Journal of Investigative Dermatology|September 8, 2019
Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple DermatofibromasChavalit Supsrisunjai, Chao-Kai Hsu, Magdalene Michael, et al.
Nature Genetics|September 6, 2011
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)Pia Ostergaard, Michael A Simpson, Fiona C Connell, et al.
American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, et al.
The New England Journal of Medicine|January 21, 2016
Assessment of Minimal Residual Disease in Standard-Risk AMLAdam Ivey, Robert K Hills, Michael A Simpson, et al.
Journal of the American Heart Association|November 24, 2021
Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected DeathC Anwar A Chahal, David J Tester, Ahmed U Fayyaz, et al.
Human Molecular Genetics|January 10, 2013
Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencingHung-Fat Tse, Jenny C Y Ho, Shing-Wan Choi, et al.
Nature Communications|April 25, 2019
Sequencing of human genomes with nanopore technologyRory Bowden, Robert W Davies, Andreas Heger, et al.
Nature Genetics|March 8, 2011
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossMichael A Simpson, Melita D Irving, Esra Asilmaz, et al.
Pageof 17