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Ellen G Pfendner

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The Journal of Investigative Dermatology|August 16, 2005
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosisEllen G Pfendner, Sara G Sadowski, Jouni Uitto
Expert Opinion on Medical Diagnostics|March 15, 2013
Pseudoxanthoma elasticum: genetic diagnostic markersEllen G Pfendner, Jouni Uitto, Gary F Gerard, et al.
Pediatric Dermatology|April 24, 2008
Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafnessSarah Weinel, Anne W Lucky, Jouni Uitto, et al.
Prenatal Diagnosis|June 19, 2003
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at riskEllen G Pfendner, Aoi Nakano, Leena Pulkkinen, et al.
Journal of Medical Genetics|July 10, 2007
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticumEllen G Pfendner, Olivier M Vanakker, Sharon F Terry, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
The Journal of Investigative Dermatology|August 16, 2005
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosisEllen G Pfendner, Sara G Sadowski, Jouni Uitto
Expert Opinion on Medical Diagnostics|March 15, 2013
Pseudoxanthoma elasticum: genetic diagnostic markersEllen G Pfendner, Jouni Uitto, Gary F Gerard, et al.
Pediatric Dermatology|April 24, 2008
Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafnessSarah Weinel, Anne W Lucky, Jouni Uitto, et al.
Prenatal Diagnosis|June 19, 2003
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at riskEllen G Pfendner, Aoi Nakano, Leena Pulkkinen, et al.
Journal of Medical Genetics|July 10, 2007
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticumEllen G Pfendner, Olivier M Vanakker, Sharon F Terry, et al.
Pageof 1