Search

Author/Creator Ocaka, Louise

1. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Issue 1 (December 2017)

Authors:
Le Quesne Stabej, Polona; James, Chela; Ocaka, Louise; Tekman, Mehmet; Grunewald, Stephanie; Clement, Emma; Stanescu, Horia; Kleta, Robert; Morrogh, Deborah; Calder, Alistair; Williams, Hywel; Bitner-Glindzicz, Maria
Journal:
Orphanet journal of rare diseases
Issue:
Volume 12:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Issue 3 (2nd March 2017)

Authors:
Reid, Emma S.; Williams, Hywel; Anderson, Glenn; Benatti, Malika; Chong, Kling; James, Chela; Ocaka, Louise; Hemingway, Cheryl; Little, Daniel; Brown, Richard; Parker, Alasdair; Holden, Simon; Footitt, Emma; Rahman, Shamima; Gissen, Paul; Mills, Philippa B.; Clayton, Peter T.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 3(2017)
Page Start:
385
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. Issue 11 (26th July 2018)

Authors:
Mestek-Boukhibar, Lamia; Clement, Emma; Jones, Wendy D; Drury, Suzanne; Ocaka, Louise; Gagunashvili, Andrey; Le Quesne Stabej, Polona; Bacchelli, Chiara; Jani, Nital; Rahman, Shamima; Jenkins, Lucy; Hurst, Jane A; Bitner-Glindzicz, Maria; Peters, Mark; Beales, Philip L; Williams, Hywel J
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 11(2018)
Page Start:
721
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis. Issue 11 (5th September 2014)

Authors:
Kammermeier, Jochen; Drury, Suzanne; James, Chela T; Dziubak, Robert; Ocaka, Louise; Elawad, Mamoun; Beales, Philip; Lench, Nicholas; Uhlig, Holm H; Bacchelli, Chiara; Shah, Neil
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 11(2014)
Page Start:
748
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Issue 3 (6th January 2015)

Authors:
Waters, Aoife M; Asfahani, Rowan; Carroll, Paula; Bicknell, Louise; Lescai, Francesco; Bright, Alison; Chanudet, Estelle; Brooks, Anthony; Christou-Savina, Sonja; Osman, Guled; Walsh, Patrick; Bacchelli, Chiara; Chapgier, Ariane; Vernay, Bertrand; Bader, David M; Deshpande, Charu; O' Sullivan, Ma...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 3(2015)
Page Start:
147
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗