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	1.	Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. [electronic resource] by Pfendner, Ellen Uitto, Jouni Producer: 20050307 In: The Journal of investigative dermatology vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Probing the fetal genome: progress in non-invasive prenatal diagnosis. [electronic resource] by Uitto, Jouni Pfendner, Ellen Jackson, Laird G Producer: 20040331 In: Trends in molecular medicine vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. [electronic resource] by Pfendner, Ellen G Sadowski, Sara G Uitto, Jouni Producer: 20050913 In: The Journal of investigative dermatology vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. [electronic resource] by Varki, Roslyn Sadowski, Sara Uitto, Jouni Pfendner, Ellen Producer: 20070412 In: Journal of medical genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. [electronic resource] by Li, Qiaoli Jiang, Qiujie Pfendner, Ellen Váradi, András Uitto, Jouni Producer: 20090326 In: Experimental dermatology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Pseudoxanthoma elasticum: genetic diagnostic markers. [electronic resource] by Pfendner, Ellen G Uitto, Jouni Gerard, Gary F Terry, Sharon F Producer: 20130317 In: Expert opinion on medical diagnostics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	What syndrome is this? Laryngo-onycho-cutaneous syndrome. [electronic resource] by Kim, Caroline Choi Liang, Marilyn G Pfendner, Ellen Kimonis, Virginia E Producer: 20070731 In: Pediatric dermatology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness. [electronic resource] by Weinel, Sarah Lucky, Anne W Uitto, Jouni Pfendner, Ellen G Choo, Daniel Producer: 20080519 In: Pediatric dermatology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. [electronic resource] by Pfendner, Ellen G Nakano, Aoi Pulkkinen, Leena Christiano, Angela M Uitto, Jouni Producer: 20031016 In: Prenatal diagnosis vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. [electronic resource] by Lucky, Anne W Pfendner, Ellen Pillay, Elizabeth Paskel, Judy Weiner, Madeline Palisson, Francis Producer: 20071017 In: International journal of dermatology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. [electronic resource] by Pfendner, Ellen G Bruckner, Anna Conget, Paulette Mellerio, Jemima Palisson, Francis Lucky, Anne W Producer: 20071017 In: International journal of dermatology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. [electronic resource] by Nakano, Aoi Chao, Sheau-Chiou Pulkkinen, Leena Murrell, Dedee Bruckner-Tuderman, Leena Pfendner, Ellen Uitto, Jouni Producer: 20020509 In: Human genetics vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. [electronic resource] by Sprecher, Eli Yosipovitch, Gil Bergman, Reuven Ciubutaro, Dan Indelman, Margarita Pfendner, Ellen Goh, Leok C Miller, Christopher J Uitto, Jouni Richard, Gabriele Producer: 20030502 In: The Journal of investigative dermatology vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. [electronic resource] by Schara, Ulrike Tücke, Jens Mortier, Wilhelm Nüsslein, Thomas Rouan, Fatima Pfendner, Ellen Zillikens, Detlef Bruckner-Tuderman, Leena Uitto, Jouni Wiche, Gerhard Schröder, Rolf Producer: 20040831 In: European journal of pediatrics vol. 163 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. [electronic resource] by Nakano, Aoi Lestringant, Gilles G Paperna, Tamar Bergman, Reuven Gershoni, Ruth Frossard, Philippe Kanaan, Moien Meneguzzi, Guerrino Richard, Gabriele Pfendner, Ellen Uitto, Jouni Pulkkinen, Leena Sprecher, Eli Producer: 20020503 In: Journal of the American Academy of Dermatology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. [electronic resource] by Murrell, Dedee F Pasmooij, Anna M G Pas, Hendri H Marr, Penelope Klingberg, Sandra Pfendner, Ellen Uitto, Jouni Sadowski, Sara Collins, Felicity Widmer, Richard Jonkman, Marcel F Producer: 20070702 In: The Journal of investigative dermatology vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Epidermolysis bullosa simplex in Israel: clinical and genetic features. [electronic resource] by Ciubotaru, Dan Bergman, Reuven Baty, David Indelman, Margarita Pfendner, Ellen Petronius, Danny Moualem, Hannah Kanaan, Moien Ben Amitai, Danny McLean, W H Irwin Uitto, Jouni Sprecher, Eli Producer: 20030508 In: Archives of dermatology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. [electronic resource] by Bolling, Maria C Pas, Hendri H de Visser, Marianne Aronica, Eleonora Pfendner, Ellen G van den Berg, Maarten P Diercks, Gilles F H Suurmeijer, Albert J H Jonkman, Marcel F Producer: 20100416 In: The Journal of investigative dermatology vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. [electronic resource] by Pfendner, Ellen G Vanakker, Olivier M Terry, Sharon F Vourthis, Sophia McAndrew, Patricia E McClain, Monica R Fratta, Sarah Marais, Anna-Susan Hariri, Susan Coucke, Paul J Ramsay, Michele Viljoen, Denis Terry, Patrick F De Paepe, Anne Uitto, Jouni Bercovitch, Lionel G Producer: 20071023 In: Journal of medical genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. [electronic resource] by Abu Sa'd, Judeh Indelman, Margarita Pfendner, Ellen Falik-Zaccai, Tzipora C Mizrachi-Koren, Mordechai Shalev, Stavit Ben Amitai, Dani Raas-Rothshild, Annick Adir-Shani, Ayelet Borochowitz, Zvi-Uri Gershoni-Baruch, Ruth Khayat, Morad Landau, Daniela Richard, Gabriele Bergman, Reuven Uitto, Jouni Kanaan, Moien Sprecher, Eli Producer: 20060508 In: The Journal of investigative dermatology vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 21 results.