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Author/Creator Missier, Paolo

2. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Issue 10 (23rd June 2019)

Authors:
Thompson, Rachel; Papakonstantinou Ntalis, Anastasios; Beltran, Sergi; Töpf, Ana; de Paula Estephan, Eduardo; Polavarapu, Kiran; 't Hoen, Peter A. C.; Missier, Paolo; Lochmüller, Hanns
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1797
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Provenance and data differencing for workflow reproducibility analysis. (30th April 2013)

Authors:
Missier, Paolo; Woodman, Simon; Hiden, Hugo; Watson, Paul
Other Names:
Simmhan Yogesh guestEditor.; Ramakrishnan Lavanya guestEditor.; Antoniu Gabriel guestEditor.; Goble Carole guestEditor.; Yu Yong guestEditor.; Mu Yi guestEditor.; Lu Rongxing guestEditor.; Ren Jian guestEditor.; Venticinque Salvatore guestEditor.; Camacho David guestEditor.
Journal:
Concurrency and computation
Issue:
Volume 28:Number 4(2016)
Page Start:
995
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. Issue 1 (28th January 2019)

Authors:
Thompson, Rachel; Bonne, Gisèle; Missier, Paolo; Lochmüller, Hanns
Editors:
MacKenzie, Alex; Groft, Stephen; Justice, Monica; van Karnebeek, Clara
Journal:
Emerging topics in life sciences
Issue:
Volume 3:Issue 1(2019)
Page Start:
19
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗