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Record Type Journal Article Author/Creator Farrell, Sandra

1. A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2. Issue 2 (6th November 2015)

Authors:
Fauth, Christine; Steindl, Katharina; Toutain, Annick; Farrell, Sandra; Witsch‐Baumgartner, Martina; Karall, Daniela; Joset, Pascal; Böhm, Sebastian; Baumer, Alessandra; Maier, Oliver; Zschocke, Johannes; Weksberg, Rosanna; Marshall, Christian R.; Rauch, Anita
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 2(2016)
Page Start:
392
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. (December 2015)

Authors:
Marshall, Christian; Farrell, Sandra; Cushing, Donna; Paton, Tara; Stockley, Tracy; Stavropoulos, Dimitri; Ray, Peter; Szego, Michael; Lau, Lynette; Pereira, Sergio; Cohn, Ronald; Wintle, Richard; Abuzenadah, Adel; Abu-Elmagd, Muhammad; Scherer, Stephen
Journal:
BMC genomics
Issue:
Volume 16:Number 1(2015)
Page Start:
1
Record Type:
Journal Article
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