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Showing page 1 of results 1 - 10 of about 18 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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New Insights into Low Dose Dexamethasone Suppression Test in Paediatric Cushing's Syndrome | ESPE2018
Ingrid C E Wilkinson; Lee Martin; Ashley B Grossman; John P Monson; Scott Akker; Martin O Savage; William M Drake; Helen L Storr
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p015.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 Novel Stem Cell Model for the Triple A Syndrome | ESPE2018
Costa Alexandra Rodrigues Da; Shamma Qarin; Teisha Y. Bradshaw; David Watson; Rathi Prasad; Michael R. Barnes; Louise A. Methere
http://abstracts.eurospe.org/hrp/0089/hrp0089fc1.6.htm
Published: 2018-08-28

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Paediatric Cushing Disease: One Patient's Path to Cure | ESPE2016
Galina Yordanova; Violeta Iotova; Eleonora Zheleva; Chavdar Bachvarov; Yana Bocheva; Sonya Galcheva; Yavor Enchev; Krasimir Ivan
http://abstracts.eurospe.org/hrp/0086/hrp0086p2-p761.htm
Published: 2016-08-19

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Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome | ESPE2016
Rathi Prasad; Avinaash Maharaj; Eirini Meimaridou; Paul VanVeldhoven; Federica Buonocore; Eliana Barbagaleta; Ignacio Bergada; H
http://abstracts.eurospe.org/hrp/0086/hrp0086fc15.2.htm
Published: 2016-08-19

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