ESPE Abstracts Search

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Showing page 1 of results 1 - 10 of about 12 pages

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CYP11A1 (Side-chain Cleavage Enzyme) Defect in Three Brothers Causing Glucocorticoid and Mineralocorticoid Deficiency and Development of Testicular Adrenal Rest Testicular Tumour | ESPE2019
Wafa Kallali; Ewan Gray; Muhammad Zain Mehdi; Robert Lindsay; Lou Metherell; Federica Buonocore; John Achermann; Malcolm Donalds
http://abstracts.eurospe.org/hrp/0092/hrp0092P2-2
Published: 2019-08-22

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A Novel Minor Spliceosome Defect Associated with Growth Hormone Deficiency (GHD) and Primary Ovarian Insufficiency (POI) | ESPE2019
Leyla Akin; Louise Gregory; Federica Buonocore; GOSgene Group; Selim Kurtoglu; Mustafa Kendirci; Gonen Z. Burçin; Robin Lovell-
http://abstracts.eurospe.org/hrp/0092/hrp0092FC11.2
Published: 2019-08-22

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Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome | ESPE2019
Ken McElreavey; Anne Jorgensen; Caroline Eozenou; Tiphanie Merel; Joelle Bignon-Topalovic; Daisy Tan; Denis Houzelstein; Federic
http://abstracts.eurospe.org/hrp/0092/hrp0092FC10.3
Published: 2019-08-22

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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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A Novel Syndrome of IUGR, Congenital Adrenal and Gonadal Insufficiency, Severe Infections, Thrombocytopenia and Monosomy 7 is Caused by SAMD9 Mutations | ESPE2016
Federica Buonocore; Peter Kuehnen; Jenifer Suntharalingham; Shane McKee; Mohammed Didi; Angela Brady; Annie Proctor; Paolo Ghirr
http://abstracts.eurospe.org/hrp/0086/hrp0086fc1.6.htm
Published: 2016-08-19

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A Novel Mutation (c.delG209) in the Proopiomelanocortin Gene in a Child with Early-onset Obesity | ESPE2015
Semra Cetinkaya; Tulay Guran; Erdal Kurnaz; Meliksah Keskin; Elif Sagsak; Senay Savas Erdeve; Federica Buonocore; Zehra Aycan
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-200.htm
Published: 2015-08-26