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

Year Number of Results
1983 1
1992 1
1993 4
1999 1
2000 1
2001 4
2002 3
2003 4
2004 1
2005 3
2006 4
2007 6
2008 5
2009 2
2010 1
2015 1
2017 1
2018 2
2021 1
2022 0
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Search Results

36 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, Everman DB, 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, Everman DB, 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, Everman DB, 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, Everman DB, 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 with Pyloric Atresia.
Pfendner EG, Lucky AW. Pfendner EG, et al. 2008 Feb 22 [updated 2017 Sep 7]. In: Adam MP, Everman DB, 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, Everman DB, 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.
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
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.
What syndrome is this? Laryngo-onycho-cutaneous syndrome.
Kim CC, Liang MG, Pfendner E, Kimonis VE. Kim CC, et al. Among authors: pfendner e. Pediatr Dermatol. 2007 May-Jun;24(3):306-8. doi: 10.1111/j.1525-1470.2007.00408.x. Pediatr Dermatol. 2007. PMID: 17542886 Free article. No abstract available.
36 results