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Author/Creator Allen, Susan J

1. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. Issue 12 (27th November 2012)

Authors:
Halbritter, Jan; Diaz, Katrina; Chaki, Moumita; Porath, Jonathan D; Tarrier, Brendan; Fu, Clementine; Innis, Jamie L; Allen, Susan J; Lyons, Robert H; Stefanidis, Constantinos J; Omran, Heymut; Soliman, Neveen A; Otto, Edgar A
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 12(2012)
Page Start:
756
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Issue 2 (10th November 2010)

Authors:
Otto, Edgar A; Ramaswami, Gokul; Janssen, Sabine; Chaki, Moumita; Allen, Susan J; Zhou, Weibin; Airik, Rannar; Hurd, Toby W; Ghosh, Amiya K; Wolf, Matthias T; Hoppe, Bernd; Neuhaus, Thomas J; Bockenhauer, Detlef; Milford, David V; Soliman, Neveen A; Antignac, Corinne; Saunier, Sophie; Johnson, Co...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 2(2011)
Page Start:
105
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome. Issue 10 (6th July 2007)

Authors:
Helou, Juliana; Otto, Edgar A; Attanasio, Massimo; Allen, Susan J; Parisi, Melissa A; Glass, Ian; Utsch, Boris; Hashmi, Seema; Fazzi, Elisa; Omran, Heymut; O'Toole, John F; Sayer, John A; Hildebrandt, Friedhelm
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 10(2007)
Page Start:
657
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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