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Showing page 1 of results 1 - 9 of about 9 pages

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Bloom Syndrome in 7-Year-Old Girl Diagnosed with Short Stature | ESPE2019
Hanna Borysewicz-Sańczyk; Beata Sawicka; Emily Cottrell; Tasneem Ladha; Helen Storr; Artur Bossowski
http://abstracts.eurospe.org/hrp/0092/hrp0092P3-167
Published: 2019-08-22

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GHR Transcript Heterogeneity May Explain the Phenotypic Variability in Patients with Homozygous GHR Pseudoexon (6ψ) Mutation | ESPE2019
Sumana Chatterjee; Steven J Rose; Talat Mushtaq; Emily Cottrell; Avinaash V Maharaj; Jack Williams; Martin O Savage; Loiuse A Me
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC14.4
Published: 2019-08-22

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Bloom Syndrome in 7-Year-Old Girl Diagnosed with Short Stature | ESPE2019
Hanna Borysewicz-Sańczyk; Beata Sawicka; Emily Cottrell; Tasneem Ladha; Helen Storr; Artur Bossowski
http://abstracts.eurospe.org/hrp/0092/hrp0092p3-167.html
Published: 2019-08-22

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GHR Transcript Heterogeneity May Explain the Phenotypic Variability in Patients with Homozygous GHR Pseudoexon (6ψ) Mutation | ESPE2019
Sumana Chatterjee; Steven J Rose; Talat Mushtaq; Emily Cottrell; Avinaash V Maharaj; Jack Williams; Martin O Savage; Loiuse A Me
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc14.4.html
Published: 2019-08-22

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A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure | ESPE2018
Emily Cottrell; Avinaash Maharaj; Sumana Chatterjee; Anna Grandone; Grazia Cirillo; Giudice Emanuele Miraglia del; Louise A Meth
http://abstracts.eurospe.org/hrp/0089/hrp0089lb-p1.htm
Published: 2018-08-28

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Patients with GH Insensitivity and IGF-1 Resistance Harbour Copy Number Variants Causing a Silver-Russell-Like Phenotype | ESPE2018
Emily Cottrell; Sumana Chatterjee; Gudrun Moore; Miho Ishida; James Greening; Neil Wright; Artur Bossowski; Asma Deeb; Basiri Im
http://abstracts.eurospe.org/hrp/0089/hrp0089rfc10.1.htm
Published: 2018-08-28

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A Genetic Diagnosis of Familial Glucocorticoid Deficiency Resulting in Cessation of Long-term Mineralocorticoid Treatment in Three Siblings | ESPE2016
Emily Cottrell; Talat Mushtaq
http://abstracts.eurospe.org/hrp/0086/hrp0086p2-p90.htm
Published: 2016-08-19

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Beckwith-Wiedemann Syndrome and Bilateral Phaeochromocytoma: A Diagnostic Challenge | ESPE2016
Emily Cottrell; Adam Glaser; Mike Blackburn; Sabah Alvi; Talat Mushtaq; Roland Squire; Caroline Steele
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p27.htm
Published: 2016-08-19

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Gaining from Patient Experience on a Local Level: The Introduction of Annual Questionnaires for Children and Teenagers with Diabetes | ESPE2015
Emily Cottrell; Manju Chandwani; Frances Hanson; James Wong
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-261.htm
Published: 2015-08-26

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