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L Pulkkinen

Showing results (101-110 of 138) with videos related to

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The Journal of Biological Chemistry|March 30, 2001
Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separationF Spirito, S Chavanas, C Prost-Squarcioni, et al.
Nature Genetics|June 1, 1995
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresiaF Vidal, D Aberdam, C Miquel, et al.
The Journal of Investigative Dermatology|December 18, 1998
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counselingF Rouan, L Pulkkinen, M F Jonkman, et al.
The Journal of Clinical Investigation|November 15, 1996
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophyS Chavanas, L Pulkkinen, Y Gache, et al.
American Journal of Human Genetics|October 30, 1998
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsenseL Pulkkinen, F Rouan, L Bruckner-Tuderman, et al.
The Journal of Investigative Dermatology|February 11, 1998
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testingY Takizawa, H Shimizu, L Pulkkinen, et al.
International Journal of Obesity (2005)|November 5, 2008
The genetic variation in the tenomodulin gene is associated with serum total and LDL cholesterol in a body size-dependent mannerA-M Tolppanen, L Pulkkinen, T Kuulasmaa, et al.
Cell|February 21, 1997
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversionM F Jonkman, H Scheffer, R Stulp, et al.
American Journal of Human Genetics|June 1, 1997
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosaH Schumann, N Hammami-Hauasli, L Pulkkinen, et al.
The Journal of Investigative Dermatology|February 1, 1997
Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counselingA Kon, J A McGrath, L Pulkkinen, et al.
Pageof 14

Showing results (101-110 of 138) with videos related to

Sort By:
Pageof 14
The Journal of Biological Chemistry|March 30, 2001
Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separationF Spirito, S Chavanas, C Prost-Squarcioni, et al.
Nature Genetics|June 1, 1995
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresiaF Vidal, D Aberdam, C Miquel, et al.
The Journal of Investigative Dermatology|December 18, 1998
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counselingF Rouan, L Pulkkinen, M F Jonkman, et al.
The Journal of Clinical Investigation|November 15, 1996
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophyS Chavanas, L Pulkkinen, Y Gache, et al.
American Journal of Human Genetics|October 30, 1998
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsenseL Pulkkinen, F Rouan, L Bruckner-Tuderman, et al.
The Journal of Investigative Dermatology|February 11, 1998
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testingY Takizawa, H Shimizu, L Pulkkinen, et al.
International Journal of Obesity (2005)|November 5, 2008
The genetic variation in the tenomodulin gene is associated with serum total and LDL cholesterol in a body size-dependent mannerA-M Tolppanen, L Pulkkinen, T Kuulasmaa, et al.
Cell|February 21, 1997
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversionM F Jonkman, H Scheffer, R Stulp, et al.
American Journal of Human Genetics|June 1, 1997
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosaH Schumann, N Hammami-Hauasli, L Pulkkinen, et al.
The Journal of Investigative Dermatology|February 1, 1997
Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counselingA Kon, J A McGrath, L Pulkkinen, et al.
Pageof 14