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Author/Creator Chatfield, Kathryn C

1. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome. (20th June 2018)

Authors:
Van Damme, Tim; Pang, Xiaomeng; Guillemyn, Brecht; Gulberti, Sandrine; Syx, Delfien; De Rycke, Riet; Kaye, Olivier; de Die-Smulders, Christine E M; Pfundt, Rolph; Kariminejad, Ariana; Nampoothiri, Sheela; Pierquin, Geneviève; Bulk, Saskia; Larson, Austin A; Chatfield, Kathryn C; Simon, Marleen; L...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 20(2018:Oct. 15)
Page Start:
3475
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation. Issue 2 (6th January 2021)

Authors:
Mostovoy, Yulia; Yilmaz, Feyza; Chow, Stephen K; Chu, Catherine; Lin, Chin; Geiger, Elizabeth A; Meeks, Naomi J L; Chatfield, Kathryn C; Coughlin, Curtis R; Surti, Urvashi; Kwok, Pui-Yan; Shaikh, Tamim H
Editors:
Shendure, J
Journal:
Genetics
Issue:
Volume 217:Issue 2(2021)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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