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Michael A Simpson

Showing results (71-80 of 168) with videos related to

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Genome Medicine|October 31, 2025
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disordersOlivia Wootton, Patrick Campbell, Sarah Richardson, et al.
The Journal of Investigative Dermatology|September 6, 2013
The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndromeCristina Has, Dimitra Kiritsi, Jemima E Mellerio, et al.
Journal of the American Society of Nephrology : JASN|December 10, 2016
<i>MAGI2</i> Mutations Cause Congenital Nephrotic SyndromeAgnieszka Bierzynska, Katrina Soderquest, Philip Dean, et al.
American Journal of Human Genetics|August 16, 2011
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasisAlexandros Onoufriadis, Michael A Simpson, Andrew E Pink, et al.
The Journal of Pediatrics|October 1, 2018
Exome-Wide Rare Variant Analyses in Sudden Infant Death SyndromeDavid J Tester, Leonie C H Wong, Pritha Chanana, et al.
The British Journal of Dermatology|April 28, 2026
Genetic proxies of GLP1R expression are associated with lower risk of psoriasis and psoriatic arthritisRavi Ramessur, Alya G A Arham, Jake Saklatvala, et al.
Human Molecular Genetics|November 28, 2017
De novo mutations implicate novel genes in systemic lupus erythematosusVenu Pullabhatla, Amy L Roberts, Myles J Lewis, et al.
American Journal of Human Genetics|November 27, 2012
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin FragilityJohn A McGrath, Kristina L Stone, Rumena Begum, et al.
The Journal of Investigative Dermatology|January 15, 2017
Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3Chao-Kai Hsu, Maria Teresa Romano, Arti Nanda, et al.
Journal of Crohn'S & Colitis|December 7, 2017
Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative ColitisAlexandros Onoufriadis, Kristina Stone, Antreas Katsiamides, et al.
Pageof 17

Showing results (71-80 of 168) with videos related to

Sort By:
Pageof 17
Genome Medicine|October 31, 2025
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disordersOlivia Wootton, Patrick Campbell, Sarah Richardson, et al.
The Journal of Investigative Dermatology|September 6, 2013
The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndromeCristina Has, Dimitra Kiritsi, Jemima E Mellerio, et al.
Journal of the American Society of Nephrology : JASN|December 10, 2016
<i>MAGI2</i> Mutations Cause Congenital Nephrotic SyndromeAgnieszka Bierzynska, Katrina Soderquest, Philip Dean, et al.
American Journal of Human Genetics|August 16, 2011
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasisAlexandros Onoufriadis, Michael A Simpson, Andrew E Pink, et al.
The Journal of Pediatrics|October 1, 2018
Exome-Wide Rare Variant Analyses in Sudden Infant Death SyndromeDavid J Tester, Leonie C H Wong, Pritha Chanana, et al.
The British Journal of Dermatology|April 28, 2026
Genetic proxies of GLP1R expression are associated with lower risk of psoriasis and psoriatic arthritisRavi Ramessur, Alya G A Arham, Jake Saklatvala, et al.
Human Molecular Genetics|November 28, 2017
De novo mutations implicate novel genes in systemic lupus erythematosusVenu Pullabhatla, Amy L Roberts, Myles J Lewis, et al.
American Journal of Human Genetics|November 27, 2012
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin FragilityJohn A McGrath, Kristina L Stone, Rumena Begum, et al.
The Journal of Investigative Dermatology|January 15, 2017
Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3Chao-Kai Hsu, Maria Teresa Romano, Arti Nanda, et al.
Journal of Crohn'S & Colitis|December 7, 2017
Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative ColitisAlexandros Onoufriadis, Kristina Stone, Antreas Katsiamides, et al.
Pageof 17