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Showing page 1 of results 1 - 10 of about 35 matches for "guasti-leonardo"

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Reprogramming cells to acquire steroidogenic potential: towards therapy for adrenal insufficiency
Leonardo Guasti
http://www.endocrine-abstracts.org/ea/0050/ea0050apw1.2.htm
Published: 2017-10-20

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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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Metastatic pituitary carcinoma in an SDHB mutation positive patient
Nicola Tufton; Federico Roncaroli; Irene Hadjudemetriou; Mary N Dang; Judit Denes; Leonardo Guasti; Maria Thom; Michael Powell;
http://www.endocrine-abstracts.org/ea/0048/ea0048o2.htm
Published: 2017-03-16

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The Mechanistic Role of Fibroblast Growth Factor 21 (FGF21) in Growth Hormone Resistance Secondary to Chronic Childhood Conditions
Jayna Mistry; Gerard Ruiz-Babot; Leonardo Guasti; Leo Dunkel
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p593.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
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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LGR4 and EAP1 Mutations are Implicated in the Phenotype of Self-limited Delayed Puberty
Alessandra Mancini; Sasha R Howard; Gerard Ruiz-Babot; Claudia P Cabrera; Michael R Barnes; Leonardo Guasti; Leo Dunkel
http://abstracts.eurospe.org/hrp/0086/hrp0086fc12.2.htm
Published: 2016-08-19

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Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration
Sasha Howard; Leonardo Guasti; Alessandra Mancini; Alessia David; Helen Storr; Louise Metherell; Michael Sternberg; Claudia Cabr
http://abstracts.eurospe.org/hrp/0084/hrp0084ha1.htm
Published: 2015-08-26

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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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LGR4 and EAP1 mutations are implicated in the phenotype of self-limited delayed puberty
Alessandra Mancini; Sasha R Howard; Gerard Ruiz-Babot; Claudia P Cabrera; Michael R Barnes; Leonardo Guasti; Leo Dunkel
http://www.endocrine-abstracts.org/ea/0044/ea0044p139.htm
Published: 2016-10-14

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6 hit(s)
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The mechanistic role of fibroblast growth factor 21 in growth hormone resistance secondary to chronic childhood conditions
Mistry Jayna Narendra; Gerard Ruiz-Babot; Leonardo Guasti; Leo Dunkel
http://www.endocrine-abstracts.org/ea/0044/ea0044p42.htm
Published: 2016-10-14

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