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

P M Steijlen

Showing results (101-110 of 145) with videos related to

Pageof 15
Sort By:
American Journal of Medical Genetics. Part A|November 20, 2004
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratodermaM A M van Steensel, L Spruijt, I van der Burgt, et al.
The British Journal of Dermatology|September 15, 2017
Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver diseaseI F Nagtzaam, V P M Peeters, M Vreeburg, et al.
Clinical and Experimental Dermatology|June 25, 2016
Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepitheliomaL J M T Parren, K Munte, V Winnepenninckx, et al.
The British Journal of Dermatology|April 16, 2008
Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5S Badeloe, M van Geel, I Nagtzaam, et al.
The Journal of Investigative Dermatology|December 18, 1998
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1H Kremer, A P Lavrijsen, W H McLean, et al.
The Journal of Investigative Dermatology|May 8, 1999
A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndromeM A Willemsen, P M Steijlen, J G de Jong, et al.
The British Journal of Dermatology|March 25, 2005
Topical liarozole in ichthyosis: a double-blind, left-right comparative study followed by a long-term open maintenance studyG P H Lucker, C J Verfaille, A M C Heremans, et al.
Journal of Medical Genetics|November 13, 2007
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafnessE A de Zwart-Storm, H Hamm, J Stoevesandt, et al.
The British Journal of Dermatology|June 18, 2019
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythrodermaF S van Leersum, M M B Seyger, T E J Theunissen, et al.
Nederlands Tijdschrift Voor Geneeskunde|June 28, 2002
[Haemangiomas and congenital vascular malformations: their classification and diagnosis]H P Zweep, P N M A Rieu, C E van Die, et al.
Pageof 15

Showing results (101-110 of 145) with videos related to

Sort By:
Pageof 15
American Journal of Medical Genetics. Part A|November 20, 2004
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratodermaM A M van Steensel, L Spruijt, I van der Burgt, et al.
The British Journal of Dermatology|September 15, 2017
Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver diseaseI F Nagtzaam, V P M Peeters, M Vreeburg, et al.
Clinical and Experimental Dermatology|June 25, 2016
Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepitheliomaL J M T Parren, K Munte, V Winnepenninckx, et al.
The British Journal of Dermatology|April 16, 2008
Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5S Badeloe, M van Geel, I Nagtzaam, et al.
The Journal of Investigative Dermatology|December 18, 1998
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1H Kremer, A P Lavrijsen, W H McLean, et al.
The Journal of Investigative Dermatology|May 8, 1999
A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndromeM A Willemsen, P M Steijlen, J G de Jong, et al.
The British Journal of Dermatology|March 25, 2005
Topical liarozole in ichthyosis: a double-blind, left-right comparative study followed by a long-term open maintenance studyG P H Lucker, C J Verfaille, A M C Heremans, et al.
Journal of Medical Genetics|November 13, 2007
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafnessE A de Zwart-Storm, H Hamm, J Stoevesandt, et al.
The British Journal of Dermatology|June 18, 2019
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythrodermaF S van Leersum, M M B Seyger, T E J Theunissen, et al.
Nederlands Tijdschrift Voor Geneeskunde|June 28, 2002
[Haemangiomas and congenital vascular malformations: their classification and diagnosis]H P Zweep, P N M A Rieu, C E van Die, et al.
Pageof 15