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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1993 5
1998 1
2003 1
2005 1
2006 1
2007 2
2008 4
2009 1
2010 1
2015 1
2016 1
2017 1
2018 2
2021 1
2022 0
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Search Results

15 results
Results by year
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Page 1
Junctional Epidermolysis Bullosa.
Pfendner EG, Lucky AW. Pfendner EG, et al. 2008 Feb 22 [updated 2018 Dec 20]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2008 Feb 22 [updated 2018 Dec 20]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301304 Free Books & Documents. Review.
Dystrophic Epidermolysis Bullosa.
Pfendner EG, Lucky AW. Pfendner EG, et al. 2006 Aug 21 [updated 2018 Sep 13]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2006 Aug 21 [updated 2018 Sep 13]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301481 Free Books & Documents. Review.
Epidermolysis Bullosa Simplex.
Pfendner EG, Bruckner AL. Pfendner EG, et al. 1998 Oct 7 [updated 2016 Oct 13]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 1998 Oct 7 [updated 2016 Oct 13]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301543 Free Books & Documents. Review.
Epidermolysis Bullosa with Pyloric Atresia.
Pfendner EG, Lucky AW. Pfendner EG, et al. 2008 Feb 22 [updated 2017 Sep 7]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2008 Feb 22 [updated 2017 Sep 7]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301336 Free Books & Documents. Review.
Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.
Ellis C, Eason C, Snyder A, Siegel M, Pai GS, Ryan E, Pfendner EG, Lee LW. Ellis C, et al. Among authors: pfendner eg. JAAD Case Rep. 2021 Mar 20;11:63-68. doi: 10.1016/j.jdcr.2021.03.016. eCollection 2021 May. JAAD Case Rep. 2021. PMID: 33937469 Free PMC article. No abstract available.
Pseudoxanthoma elasticum: genetic diagnostic markers.
Pfendner EG, Uitto J, Gerard GF, Terry SF. Pfendner EG, et al. Expert Opin Med Diagn. 2008 Jan;2(1):63-79. doi: 10.1517/17530059.2.1.63. Expert Opin Med Diagn. 2008. PMID: 23485117
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Pfendner EG, et al. J Med Genet. 2007 Oct;44(10):621-8. doi: 10.1136/jmg.2007.051094. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617515 Free PMC article.
15 results