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Author/Creator Adler, Beryl

1. DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. (7th December 2017)

Authors:
Hartill, Verity L; van de Hoek, Glenn; Patel, Mitali P; Little, Rosie; Watson, Christopher M; Berry, Ian R; Shoemark, Amelia; Abdelmottaleb, Dina; Parkes, Emma; Bacchelli, Chiara; Szymanska, Katarzyna; Knoers, Nine V; Scambler, Peter J; Ueffing, Marius; Boldt, Karsten; Yates, Robert; Winyard, Pau...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 3(2018:Feb. 01)
Page Start:
529
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Issue 2 (8th August 2017)

Authors:
Shoemark, Amelia; Moya, Eduardo; Hirst, Robert A; Patel, Mitali P; Robson, Evelyn A; Hayward, Jane; Scully, Juliet; Fassad, Mahmoud R; Lamb, William; Schmidts, Miriam; Dixon, Mellisa; Patel-King, Ramila S; Rogers, Andrew V; Rutman, Andrew; Jackson, Claire L; Goggin, Patricia; Rubbo, Bruna; Olloss...
Journal:
Thorax
Issue:
Volume 73:Issue 2(2018)
Page Start:
157
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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