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Showing page 1 of results 1 - 10 of about 13 pages

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Diagnostic Value of Random Serum Growth Hormone (GH), IGF-I and IGFBP-3 Concentrations for the Diagnosis of Growth Hormone Deficiency (GHD) in Patients Below One Year of Life | ESPE2019
María Gabriela Ballerini; Débora Braslavsky; Analía Verónica Freire; Ana Keselman; María Eugenia Rodríguez; Mercedes Altub
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-72
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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Diagnostic Value of Random Serum Growth Hormone (GH), IGF-I and IGFBP-3 Concentrations for the Diagnosis of Growth Hormone Deficiency (GHD) in Patients Below One Year of Life | ESPE2019
María Gabriela Ballerini; Débora Braslavsky; Analía Verónica Freire; Ana Keselman; María Eugenia Rodríguez; Mercedes Altub
http://abstracts.eurospe.org/hrp/0092/hrp0092p1-72.html
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.html
Published: 2019-08-22

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Serum IGFBP-2 Concentration in Neonates with Potential Diagnosis of Growth Hormone Deficiency (GHD) | ESPE2018
Ballerini Maria Gabriela; Debora Braslavsky; Ana Keselman; Rodriguez Maria Eugenia; Gabriela Gotta; Ropelato Maria Gabriela; Ign
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p147.htm
Published: 2018-08-28

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Severe Pre- and Postnatal Growth Retardation in a Child Harboring a Novel Homozygous IGF1 Gene Mutation | ESPE2018
Keselman Ana Claudia; Scaglia Paula Alejandra; Ayelen Martin; Romina Armando; Sanguineti Nora Maria; Mariana Gutierrez; Debora B
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p143.htm
Published: 2018-08-28

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Novel LRP5 Loss-of-function Mutation Causes Osteoporosis-pseudoglioma Syndrome | ESPE2018
Debora Braslavsky; Paula Scaglia; Nora Sanguineti; Hamilton Cassinelli; Schenstrom Olivia Ruiz; Romina Armando; Claudia Arberas;
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p036.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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Monogenic and Digenic Gene Mutations are Present in Children with Idiopathic Short Stature (ISS) | ESPE2018
Nora Maria Sanguineti; Laura Ramirez; Ana Claudia Keselman; Paula Alejandra Scaglia; Maria Gabriela Ropelato; Maria Gabriela Bal
http://abstracts.eurospe.org/hrp/0089/hrp0089fc4.1.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

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