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Michael A Simpson

Showing results (11-20 of 168) with videos related to

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American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 24, 2009
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3Michael A Simpson, Harold E Cross, Leroy Cross, et al.
Experimental Cell Research|June 20, 2006
Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neuronsDimitri Robay, Heema Patel, Michael A Simpson, et al.
Experimental Dermatology|May 21, 2016
Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesisChristos Tziotzios, Catherine M Stefanato, David A Fenton, et al.
Journal of Dermatological Science|November 9, 2015
Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndromeTakuya Takeichi, Kazumitsu Sugiura, Simon Tso, et al.
The Journal of Investigative Dermatology|October 26, 2012
γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesisAndrew E Pink, Michael A Simpson, Nemesha Desai, et al.
European Journal of Human Genetics : EJHG|February 4, 2026
Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgarisBrittany L Mitchell, Michelle K Lupton, Miguel E Rentería, et al.
The Journal of Investigative Dermatology|December 30, 2011
Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility geneAlexandros Onoufriadis, Michael A Simpson, A David Burden, et al.
American Journal of Medical Genetics. Part A|September 20, 2016
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 geneMelita D Irving, Boyan I Dimitrov, Marja Wessels, et al.
Acta Dermato-Venereologica|January 24, 2020
Psoriasis and GeneticsNick Dand, Satveer K Mahil, Francesca Capon, et al.
JAMA Dermatology|December 27, 2018
Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)Alexandros Onoufriadis, Arti Nanda, Adam Sheriff, et al.
Pageof 17

Showing results (11-20 of 168) with videos related to

Sort By:
Pageof 17
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 24, 2009
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3Michael A Simpson, Harold E Cross, Leroy Cross, et al.
Experimental Cell Research|June 20, 2006
Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neuronsDimitri Robay, Heema Patel, Michael A Simpson, et al.
Experimental Dermatology|May 21, 2016
Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesisChristos Tziotzios, Catherine M Stefanato, David A Fenton, et al.
Journal of Dermatological Science|November 9, 2015
Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndromeTakuya Takeichi, Kazumitsu Sugiura, Simon Tso, et al.
The Journal of Investigative Dermatology|October 26, 2012
γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesisAndrew E Pink, Michael A Simpson, Nemesha Desai, et al.
European Journal of Human Genetics : EJHG|February 4, 2026
Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgarisBrittany L Mitchell, Michelle K Lupton, Miguel E Rentería, et al.
The Journal of Investigative Dermatology|December 30, 2011
Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility geneAlexandros Onoufriadis, Michael A Simpson, A David Burden, et al.
American Journal of Medical Genetics. Part A|September 20, 2016
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 geneMelita D Irving, Boyan I Dimitrov, Marja Wessels, et al.
Acta Dermato-Venereologica|January 24, 2020
Psoriasis and GeneticsNick Dand, Satveer K Mahil, Francesca Capon, et al.
JAMA Dermatology|December 27, 2018
Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)Alexandros Onoufriadis, Arti Nanda, Adam Sheriff, et al.
Pageof 17