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Author/Creator Storr, Helen L

2. Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature. Issue 4 (21st March 2023)

Authors:
Andrews, Afiya; Cottrell, Emily; Maharaj, Avinaash; Ladha, Tasneem; Williams, Jack; Schilbach, Katharina; Kaisinger, Lena R; Perry, John R B; Metherell, Louise A; McCormick, Peter J; Storr, Helen L
Journal:
European journal of endocrinology
Issue:
Volume 188:Issue 4(2023)
Page Start:
353
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. Issue 5 (May 2018)

Authors:
Chatterjee, Sumana; Shapiro, Lucy; Rose, Stephen J; Mushtaq, Talat; Clayton, Peter E; Ten, Svetlana B; Bhangoo, Amrit; Kumbattae, Uma; Dias, Renuka; Savage, Martin O; Metherell, Louise A; Storr, Helen L
Journal:
European journal of endocrinology
Issue:
Volume 178:Issue 5(2018)
Page Start:
481
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. 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) ↗

9. 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) ↗

10. Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity. Issue 6 (December 2017)

Authors:
Shapiro, Lucy; Chatterjee, Sumana; Ramadan, Dina G; Davies, Kate M; Savage, Martin O; Metherell, Louise A; Storr, Helen L
Journal:
European journal of endocrinology
Issue:
Volume 177:Issue 6(2017)
Page Start:
485
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗