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Michael A Simpson

Showing results (131-140 of 168) with videos related to

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JCI Insight|February 22, 2023
Development of antidrug antibodies against adalimumab maps to variation within the HLA-DR peptide-binding grooveTeresa Tsakok, Jake Saklatvala, Theo Rispens, et al.
Epilepsia|May 30, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizuresShan Tang, Laura Addis, Anna Smith, et al.
Human Molecular Genetics|March 6, 2016
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expressionJoel Smith, Martin L Read, Jon Hoffman, et al.
American Journal of Human Genetics|December 3, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
Brain : a Journal of Neurology|October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian populationMonika Oláhová, Steven A Hardy, Julie Hall, et al.
The Journal of Investigative Dermatology|April 24, 2025
Cholesterol pathway gene variants and reduced keratinocyte cholesterol support a final common druggable pathway in hyperproliferative inflammatory skin diseasesMelissa Riachi, Dale Bryant, James Ellis, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndromeDorien Schepers, Alexander J Doyle, Gretchen Oswald, et al.
American Journal of Human Genetics|February 4, 2017
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23John Y W Lee, Chao-Kai Hsu, Magdalene Michael, et al.
Blood|April 29, 2016
Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndromeWesley J Woollard, Venu Pullabhatla, Anna Lorenc, et al.
Pageof 17

Showing results (131-140 of 168) with videos related to

Sort By:
Pageof 17
JCI Insight|February 22, 2023
Development of antidrug antibodies against adalimumab maps to variation within the HLA-DR peptide-binding grooveTeresa Tsakok, Jake Saklatvala, Theo Rispens, et al.
Epilepsia|May 30, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizuresShan Tang, Laura Addis, Anna Smith, et al.
Human Molecular Genetics|March 6, 2016
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expressionJoel Smith, Martin L Read, Jon Hoffman, et al.
American Journal of Human Genetics|December 3, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
Brain : a Journal of Neurology|October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian populationMonika Oláhová, Steven A Hardy, Julie Hall, et al.
The Journal of Investigative Dermatology|April 24, 2025
Cholesterol pathway gene variants and reduced keratinocyte cholesterol support a final common druggable pathway in hyperproliferative inflammatory skin diseasesMelissa Riachi, Dale Bryant, James Ellis, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndromeDorien Schepers, Alexander J Doyle, Gretchen Oswald, et al.
American Journal of Human Genetics|February 4, 2017
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23John Y W Lee, Chao-Kai Hsu, Magdalene Michael, et al.
Blood|April 29, 2016
Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndromeWesley J Woollard, Venu Pullabhatla, Anna Lorenc, et al.
Pageof 17