ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

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Showing page 1 of results 1 - 10 of about 25 pages

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An unusual presentation of congenital lipoid adrenal hyperplasia and novel STAR mutation in two siblings
Edward Andrews; Carl Taylor; Lou Metherell; Frederica Buonocore; John Achermann; Avinaash Maharaj
http://www.endocrine-abstracts.org/ea/0051/ea0051p010.htm
Published: 2017-10-30

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Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing
Avinaash Maharaj; Federica Buonocore; Eirini Meimaridou; Gerard Ruiz-Babot; Leonardo Guasti; Hwei-Ming Peng; Cameron Capper; Rat
http://www.endocrine-abstracts.org/ea/0050/ea0050oc4.1.htm
Published: 2017-10-20

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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
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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Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant
Avinaash Maharaj; Federica Buonocore; Eirini Meimaridou; Tim Cheetham; Caroline Brain; Ewan Gray; Jenifer Suntharalingham; Nicco
http://www.endocrine-abstracts.org/ea/0045/ea0045oc5.6.htm
Published: 2016-11-14

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Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome
Rathi Prasad; Avinaash Maharaj; Eirini Meimaridou; Veldhoven Paul van; Federica Buonocore; Eliana Barbagelata; Ignacio Bergada;
http://www.endocrine-abstracts.org/ea/0045/ea0045oc5.3.htm
Published: 2016-11-14

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Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome
Rathi Prasad; Avinaash Maharaj; Eirini Meimaridou; Paul VanVeldhoven; Federica Buonocore; Ignacio Bergada; Eliana Barbagelata; H
http://www.endocrine-abstracts.org/ea/0044/ea0044oc1.1.htm
Published: 2016-10-14

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Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity | BSPED2019
Emily Cottrell; Avinaash Maharaj; Tasneem Ladha; Sumana Chatterjee; Anna Grandone; Grazia Cirillo; Giudice Emanuele Miraglia del
https://www.endocrine-abstracts.org/ea/0066/ea0066p73
Published: 2019-11-11

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Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity | BSPED2019
Emily Cottrell; Avinaash Maharaj; Tasneem Ladha; Sumana Chatterjee; Anna Grandone; Grazia Cirillo; Giudice Emanuele Miraglia del
https://www.endocrine-abstracts.org/ea/0066/ea0066p73.htm
Published: 2019-11-11

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Rare causes of primary adrenal insufficiency (PAI) in children from Sudan | BSPED2019
Younus Qamar; Avinaash Maharaj; Li Chan; S AbdulBagi; M Abdullah; Louise Metherell
https://www.endocrine-abstracts.org/ea/0066/ea0066oc5.9
Published: 2019-11-11

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Rare causes of primary adrenal insufficiency (PAI) in children from Sudan | BSPED2019
Younus Qamar; Avinaash Maharaj; Li Chan; S AbdulBagi; M Abdullah; Louise Metherell
https://www.endocrine-abstracts.org/ea/0066/ea0066oc5.9.htm
Published: 2019-11-11

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