Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

M A Simpson

Showing results (121-130 of 153) with videos related to

Pageof 16
Sort By:
Heart (British Cardiac Society)|May 10, 2008
Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the AmishK Zahka, K Kalidas, M A Simpson, et al.
The British Journal of Dermatology|January 24, 2017
Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7T Takeichi, T Nomura, H Takama, et al.
The British Journal of Dermatology|October 14, 2014
Whole-exome sequencing diagnosis of two autosomal recessive disorders in one familyT Takeichi, A Nanda, S Aristodemou, et al.
Clinical and Experimental Dermatology|September 20, 2019
Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGLA Onoufriadis, J K Simpson, C McDonald, et al.
Scientifica|November 27, 2013
A Novel ABCA12 Mutation in Two Families with Congenital IchthyosisD M Walsh, S H Shah, M A Simpson, et al.
The British Journal of Dermatology|July 26, 2014
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in KuwaitT Takeichi, A Nanda, L Liu, et al.
Journal of Medical Genetics|January 7, 2005
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14P A Wilkinson, M A Simpson, L Bastaki, et al.
The British Journal of Dermatology|July 29, 2016
Hidradenitis suppurativa: haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitroA E Pink, D Dafou, N Desai, et al.
The British Journal of Dermatology|December 10, 2020
A germline mutation in the platelet-derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosisA Onoufriadis, B Boulouadnine, G Dachy, et al.
The British Journal of Dermatology|July 14, 2016
Syndromic inherited poikiloderma due to a de novo mutation in FAM111BT Takeichi, A Nanda, H-S Yang, et al.
Pageof 16

Showing results (121-130 of 153) with videos related to

Sort By:
Pageof 16
Heart (British Cardiac Society)|May 10, 2008
Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the AmishK Zahka, K Kalidas, M A Simpson, et al.
The British Journal of Dermatology|January 24, 2017
Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7T Takeichi, T Nomura, H Takama, et al.
The British Journal of Dermatology|October 14, 2014
Whole-exome sequencing diagnosis of two autosomal recessive disorders in one familyT Takeichi, A Nanda, S Aristodemou, et al.
Clinical and Experimental Dermatology|September 20, 2019
Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGLA Onoufriadis, J K Simpson, C McDonald, et al.
Scientifica|November 27, 2013
A Novel ABCA12 Mutation in Two Families with Congenital IchthyosisD M Walsh, S H Shah, M A Simpson, et al.
The British Journal of Dermatology|July 26, 2014
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in KuwaitT Takeichi, A Nanda, L Liu, et al.
Journal of Medical Genetics|January 7, 2005
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14P A Wilkinson, M A Simpson, L Bastaki, et al.
The British Journal of Dermatology|July 29, 2016
Hidradenitis suppurativa: haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitroA E Pink, D Dafou, N Desai, et al.
The British Journal of Dermatology|December 10, 2020
A germline mutation in the platelet-derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosisA Onoufriadis, B Boulouadnine, G Dachy, et al.
The British Journal of Dermatology|July 14, 2016
Syndromic inherited poikiloderma due to a de novo mutation in FAM111BT Takeichi, A Nanda, H-S Yang, et al.
Pageof 16