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Author/Creator Amor, David

1. A novel approach to offering additional genomic findings—A protocol to test a two‐step approach in the healthcare system. Issue 2 (18th February 2019)

Authors:
Martyn, Melissa; Kanga‐Parabia, Anaita; Lynch, Elly; James, Paul A.; Macciocca, Ivan; Trainer, Alison H.; Halliday, Jane; Keogh, Louise; Wale, Janney; Winship, Ingrid; Bogwitz, Michael; Valente, Giulia; Walsh, Maie; Downie, Lilian; Amor, David; Wallis, Mathew; Cunningham, Fiona; Burgess, Matthew;...
Journal:
Journal of genetic counseling
Issue:
Volume 28:Issue 2(2019)
Page Start:
388
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. FMR1 allele size distribution in 35, 000 males and females: a comparison of developmental delay and general population cohorts. (December 2018)

Authors:
Kraan, Claudine; Bui, Quang; Field, Mike; Archibald, Alison; Metcalfe, Sylvia; Christie, Louise; Bennetts, Bruce; Oertel, Ralph; Smith, Melanie; du Sart, Desiree; Bruno, Damien; Wotton, Tiffany; Amor, David; Francis, David; Godler, David
Journal:
Genetics in medicine
Issue:
Volume 20:Number 12(2018)
Page Start:
1627
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14. Issue 12 (7th November 2017)

Authors:
Stutterd, Chloe; Diakumis, Peter; Bahlo, Melanie; Fanjul Fernandez, Miriam; Leventer, Richard J.; Delatycki, Martin; Amor, David; Chow, Chung W.; Stephenson, Sarah; Meisler, Miriam H.; Mclean, Catriona; Lockhart, Paul J.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 4:Issue 12(2017)
Page Start:
859
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children. (12th February 2019)

Authors:
Giudice‐Nairn, Peter; Downs, Jenny; Wong, Kingsley; Wilson, Dylan; Ta, Daniel; Gattas, Michael; Amor, David; Thompson, Elizabeth; Kirrali‐Borri, Cathy; Ellaway, Carolyn; Leonard, Helen
Journal:
Journal of paediatrics and child health
Issue:
Volume 55:Number 11(2019)
Page Start:
1315
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗