ESPE Abstracts Search

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Showing page 1 of results 1 - 8 of about 8 pages

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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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SGPL1 Deficiency Leads to Downregulation of Key Enzymes Within the Steroidogenic Pathway | ESPE2019
Avinaash Maharaj; Eirini Meimaridou; Jack Williams; Tülay Güran; Debora Braslavsky; Louise Metherell; Rathi Prasad
http://abstracts.eurospe.org/hrp/0092/hrp0092FC13.5
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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Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency is Associated with Mitochondrial Dysfunction | ESPE2018
Avinaash Maharaj; Teisha Bradshaw; Jack Williams; Tulay Guran; Debora Braslavsky; Britta Brugger; Lou Metherell; Rathi Prasad
http://abstracts.eurospe.org/hrp/0089/hrp0089rfc1.3.htm
Published: 2018-08-28

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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