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L Pulkkinen

Showing results (71-80 of 138) with videos related to

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The Journal of Biological Chemistry|October 15, 1990
Deficient expression of the gene coding for decorin in a lethal form of Marfan syndromeL Pulkkinen, K Kainulainen, T Krusius, et al.
American Journal of Human Genetics|February 1, 1997
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosaB Gatalica, L Pulkkinen, K Li, et al.
Acta Psychiatrica Scandinavica|November 14, 2007
Chernobyl exposure as stressor during pregnancy and behaviour in adolescent offspringA C Huizink, D M Dick, E Sihvola, et al.
The Journal of Investigative Dermatology|August 22, 2000
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosaY Takizawa, L Pulkkinen, S C Chao, et al.
Human Molecular Genetics|May 1, 1997
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresiaL Pulkkinen, V E Kimonis, Y Xu, et al.
The Journal of Investigative Dermatology|July 1, 1997
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosaS Chavanas, Y Gache, G Tadini, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|August 5, 1998
LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levelsL Pulkkinen, M F Jonkman, J A McGrath, et al.
Human Molecular Genetics|September 15, 1999
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageingS Chavanas, Y Gache, J Vailly, et al.
The Journal of Investigative Dermatology|March 1, 1995
Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosaJ Vailly, L Pulkkinen, A M Christiano, et al.
Journal of Epidemiology and Community Health|March 28, 2008
Chernobyl exposure as stressor during pregnancy and hormone levels in adolescent offspringA C Huizink, M Bartels, R J Rose, et al.
Pageof 14

Showing results (71-80 of 138) with videos related to

Sort By:
Pageof 14
The Journal of Biological Chemistry|October 15, 1990
Deficient expression of the gene coding for decorin in a lethal form of Marfan syndromeL Pulkkinen, K Kainulainen, T Krusius, et al.
American Journal of Human Genetics|February 1, 1997
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosaB Gatalica, L Pulkkinen, K Li, et al.
Acta Psychiatrica Scandinavica|November 14, 2007
Chernobyl exposure as stressor during pregnancy and behaviour in adolescent offspringA C Huizink, D M Dick, E Sihvola, et al.
The Journal of Investigative Dermatology|August 22, 2000
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosaY Takizawa, L Pulkkinen, S C Chao, et al.
Human Molecular Genetics|May 1, 1997
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresiaL Pulkkinen, V E Kimonis, Y Xu, et al.
The Journal of Investigative Dermatology|July 1, 1997
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosaS Chavanas, Y Gache, G Tadini, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|August 5, 1998
LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levelsL Pulkkinen, M F Jonkman, J A McGrath, et al.
Human Molecular Genetics|September 15, 1999
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageingS Chavanas, Y Gache, J Vailly, et al.
The Journal of Investigative Dermatology|March 1, 1995
Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosaJ Vailly, L Pulkkinen, A M Christiano, et al.
Journal of Epidemiology and Community Health|March 28, 2008
Chernobyl exposure as stressor during pregnancy and hormone levels in adolescent offspringA C Huizink, M Bartels, R J Rose, et al.
Pageof 14