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L Pulkkinen

Showing results (111-120 of 138) with videos related to

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Human Molecular Genetics|October 1, 1996
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophyL Pulkkinen, F J Smith, H Shimizu, et al.
The Journal of Investigative Dermatology|August 1, 1997
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategyL Pulkkinen, G Meneguzzi, J A McGrath, et al.
Journal of Cell Science|April 1, 1994
Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplexY M Chan, Q C Yu, J LeBlanc-Straceski, et al.
Human Molecular Genetics|October 1, 1994
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosaC Baudoin, C Miquel, L Gagnoux-Palacios, et al.
The Journal of Investigative Dermatology|April 1, 1995
Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrenceJ Vailly, L Pulkkinen, C Miquel, et al.
International Journal of Obesity (2005)|October 30, 2008
Association of sequence variations in the gene encoding insulin-like growth factor binding protein 5 with adiponectinP Kallio, A-M Tolppanen, M Kolehmainen, et al.
Prenatal Diagnosis|July 1, 1995
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one familyJ A McGrath, J R McMillan, M G Dunnill, et al.
Molecular Medicine (Cambridge, Mass.)|February 1, 1997
Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis BullosaL Pulkkinen, J McGrath, T Airenne, et al.
The British Journal of Dermatology|May 1, 1997
A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral alleleG H Ashton, J E Mellerio, M G Dunnill, et al.
The Journal of Investigative Dermatology|January 29, 2000
Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin geneM Kunz, F Rouan, L Pulkkinen, et al.
Pageof 14

Showing results (111-120 of 138) with videos related to

Sort By:
Pageof 14
Human Molecular Genetics|October 1, 1996
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophyL Pulkkinen, F J Smith, H Shimizu, et al.
The Journal of Investigative Dermatology|August 1, 1997
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategyL Pulkkinen, G Meneguzzi, J A McGrath, et al.
Journal of Cell Science|April 1, 1994
Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplexY M Chan, Q C Yu, J LeBlanc-Straceski, et al.
Human Molecular Genetics|October 1, 1994
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosaC Baudoin, C Miquel, L Gagnoux-Palacios, et al.
The Journal of Investigative Dermatology|April 1, 1995
Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrenceJ Vailly, L Pulkkinen, C Miquel, et al.
International Journal of Obesity (2005)|October 30, 2008
Association of sequence variations in the gene encoding insulin-like growth factor binding protein 5 with adiponectinP Kallio, A-M Tolppanen, M Kolehmainen, et al.
Prenatal Diagnosis|July 1, 1995
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one familyJ A McGrath, J R McMillan, M G Dunnill, et al.
Molecular Medicine (Cambridge, Mass.)|February 1, 1997
Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis BullosaL Pulkkinen, J McGrath, T Airenne, et al.
The British Journal of Dermatology|May 1, 1997
A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral alleleG H Ashton, J E Mellerio, M G Dunnill, et al.
The Journal of Investigative Dermatology|January 29, 2000
Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin geneM Kunz, F Rouan, L Pulkkinen, et al.
Pageof 14