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Author/Creator Worthey, Elizabeth

1. A172: Metaphyseal Chondrodysplasia, Ectodermal Dysplasia, Short Stature, Hypergammaglobulinemia, and Spontaneous Inflammation Without Infections in an Extended Family Due to Mutation in NFKB1A. Issue Volume 66:Issue(2014)supplement 3 (March 2014)

Authors:
Oberle, Edward J.; Verbsky, James W.; Routes, John; Hintermeyer, Mary; Worthey, Elizabeth; Dasu, Trivikram; Bengtson, Christine; Buzzell, Alyssa
Journal:
Arthritis & rheumatology
Issue:
Volume 66:Issue(2014)supplement 3
Page Start:
S224
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. A172: Metaphyseal Chondrodysplasia, Ectodermal Dysplasia, Short Stature, Hypergammaglobulinemia, and Spontaneous Inflammation Without Infections in an Extended Family Due to Mutation in NFKB1A. Issue 11 (March 2014)

Authors:
Oberle, Edward J.; Verbsky, James W.; Routes, John; Hintermeyer, Mary; Worthey, Elizabeth; Dasu, Trivikram; Bengtson, Christine; Buzzell, Alyssa
Journal:
Arthritis & rheumatology
Issue:
Volume 66:Issue 11(2014)supplement
Page Start:
S224
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. (November 2018)

Authors:
Cumming, Sarah; Hamilton, Mark; Robb, Yvonne; Gregory, Helen; McWilliam, Catherine; Cooper, Anneli; Adam, Berit; McGhie, Josephine; Hamilton, Graham; Herzyk, Pawel; Tschannen, Michael; Worthey, Elizabeth; Petty, Richard; Ballantyne, Bob; Warner, Jon; Farrugia, Maria; Longman, Cheryl; Monckton, Da...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 11(2018)
Page Start:
1635
Record Type:
Journal Article
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4. Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. Issue 1 (July 2019)

Authors:
Lekbua, Asama; Ouahed, Jodie; O'Connell, Amy E.; Kahn, Stacy A.; Goldsmith, Jeffrey D.; Imamura, Toshihiko; Duncan, Christine N.; Kelsen, Judith R.; Worthey, Elizabeth; Snapper, Scott B.; Softic, Samir
Journal:
Journal of pediatric gastroenterology and nutrition
Issue:
Volume 69:Issue 1(2019)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗