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Author/Creator Kamien, Benjamin

12. Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia. Issue 6 (16th June 2019)

Authors:
Ong, Royston; Edwards, Samantha; Howting, Denise; Kamien, Benjamin; Harrop, Karen; Ravenscroft, Gianina; Davis, Mark; Fietz, Michael; Pachter, Nicholas; Beilby, John; Laing, Nigel
Journal:
BMJ open
Issue:
Volume 9:Issue 6(2019)
Page Start:
Record Type:
Journal Article
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13. The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?. Issue 9 (20th July 2020)

Authors:
Li, Dong; Ahrens‐Nicklas, Rebecca C.; Baker, Janice; Bhambhani, Vikas; Calhoun, Amy; Cohen, Julie S.; Deardorff, Matthew A.; Fernández‐Jaén, Alberto; Kamien, Benjamin; Jain, Mahim; Mckenzie, Fiona; Mintz, Mark; Motter, Constance; Niles, Kirsten; Ritter, Alyssa; Rogers, Curtis; Roifman, Maian; Tow...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 9(2020)
Page Start:
2058
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗