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Author/Creator Moore, Gudrun E

3. Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood. Issue 10 (13th February 2020)

Authors:
Lokulo-Sodipe, Oluwakemi; Ballard, Lisa; Child, Jenny; Inskip, Hazel M; Byrne, Christopher D; Ishida, Miho; Moore, Gudrun E; Wakeling, Emma L; Fenwick, Angela; Mackay, Deborah J G; Davies, Justin Huw; Temple, I Karen
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 10(2020)
Page Start:
683
Record Type:
Journal Article
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4. Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity. Issue 6 (December 2020)

Authors:
Cottrell, Emily; Cabrera, Claudia P; Ishida, Miho; Chatterjee, Sumana; Greening, James; Wright, Neil; Bossowski, Artur; Dunkel, Leo; Deeb, Asma; Basiri, Iman Al; Rose, Stephen J; Mason, Avril; Bint, Susan; Ahn, Joo Wook; Hwa, Vivian; Metherell, Louise A; Moore, Gudrun E; Storr, Helen L
Journal:
European journal of endocrinology
Issue:
Volume 183:Issue 6(2020)
Page Start:
581
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity. Issue 6 (December 2020)

Authors:
Cottrell, Emily; Cabrera, Claudia P; Ishida, Miho; Chatterjee, Sumana; Greening, James; Wright, Neil; Bossowski, Artur; Dunkel, Leo; Deeb, Asma; Basiri, Iman Al; Rose, Stephen J; Mason, Avril; Bint, Susan; Ahn, Joo Wook; Hwa, Vivian; Metherell, Louise A; Moore, Gudrun E; Storr, Helen L
Journal:
European journal of endocrinology
Issue:
Volume 183:Issue 6(2020)
Page Start:
581
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. (9th April 2018)

Authors:
Bryant, Dale; Liu, Yang; Datta, Sanchari; Hariri, Hanaa; Seda, Marian; Anderson, Glenn; Peskett, Emma; Demetriou, Charalambos; Sousa, Sergio; Jenkins, Dagan; Clayton, Peter; Bitner-Glindzicz, Maria; Moore, Gudrun E; Henne, W Mike; Stanier, Philip
Journal:
Human molecular genetics
Issue:
Volume 27:Number 11(2018:Jun. 01)
Page Start:
1927
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗