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Author/Creator Kramer, Nancy

1. Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance. (29th April 2015)

Authors:
Russell, Bianca; Johnston, Jennifer J.; Biesecker, Leslie G.; Kramer, Nancy; Pickart, Angela; Rhead, William; Tan, Wen‐Hann; Brownstein, Catherine A.; Kate Clarkson, L.; Dobson, Amy; Rosenberg, Avi Z.; Vergano, Samantha A. Schrier; Helm, Benjamin M.; Harrison, Rachel E.; Graham, John M.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 9(2015:Sep.)
Page Start:
2122
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013)

Authors:
Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W.M.; van Minderhout, Ivonne J.H.M.; Snowdowne, Ronelle; van der Lans, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der Wielen, Michiel J.R.; Vollebregt, M.J. (E...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1519
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013)

Authors:
Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van, Bregje W.M.; van, Ivonne J.H.M.; Snowdowne, Ronelle; van der, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der, Michiel J.R.; Vollebregt, M.J. (Ellen); Breuning, Martijn H....
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1519
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance. (11th June 2015)

Authors:
Barber, John C. K.; Rosenfeld, Jill A.; Graham, John M.; Kramer, Nancy; Lachlan, Katherine L.; Bateman, Mark S.; Collinson, Morag N.; Stadheim, Barbro Fossøy; Turner, Claire L. S.; Gauthier, Jacqueline N.; Reimschisel, Tyler E.; Qureshi, Athar M.; Dabir, Tabib A.; Humphreys, Mervyn W.; Marble, Mi...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 9(2015:Sep.)
Page Start:
2052
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗