Showing results (21-30 of 580) with videos related to

Sort By:
Pageof 58
Prenatal Diagnosis|April 1, 1997
Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosaA M Christiano, L Pulkkinen, J A McGrath, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|June 1, 1997
Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresiaL Pulkkinen, K Kurtz, Y Xu, et al.
Pediatric Dermatology|September 16, 2000
Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical managementR Wallerstein, M L Klein, N Genieser, et al.
The Journal of Investigative Dermatology|September 18, 1998
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosaA Kon, L Pulkkinen, A Ishida-Yamamoto, et al.
Experimental Dermatology|March 13, 2003
Novel member of the mouse desmoglein gene family: Dsg1-betaL Pulkkinen, Y W Choi, A Kljuic, et al.
Human Molecular Genetics|February 1, 1996
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosaS Kivirikko, J A McGrath, L Pulkkinen, et al.
The Journal of Investigative Dermatology|June 1, 1997
Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrinY Takizawa, H Shimizu, T Nishikawa, et al.
Archives of Dermatological Research|June 3, 2000
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosaJ Y Lee, C Li, S C Chao, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|March 4, 1998
Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutationsM Dang, L Pulkkinen, F J Smith, et al.
The Journal of Investigative Dermatology|November 5, 1997
Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelicA Kon, K Nomura, L Pulkkinen, et al.
Pageof 58