ESPE Abstracts Search

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Subcutaneous Ossifications in Children - Think About AHO! | ESPE2019
Monika Flury; Friederike Quitter; Olaf Hiort; Angela Huebner
http://abstracts.eurospe.org/hrp/0092/hrp0092P2-205
Published: 2019-08-22

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Establishing of a Novel NGS Tool for the Diagnosis of X-linked Hypophosphatemia (XLH) | ESPE2019
Susanne Thiele; Anita Stubbe; Ralf Werner; Olaf Hiort; Wolfgang Hoeppner
http://abstracts.eurospe.org/hrp/0092/hrp0092T7
Published: 2019-08-22

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qPCR Screening for Xp21.2 Copy Number Variations in Patients with Elusive Aetiology of 46,XY DSD | ESPE2019
Jakob Meinel; Gaurav Dwivedi; Paul-Martin Holterhus; Olaf Hiort; Ralf Werner
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC10.4
Published: 2019-08-22

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European Registries For Rare Endocrine Conditions (EuRRECa): Results From The Pilot Phase Of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC) | ESPE2019
Salma Ali; Jillian Bryce; Tom Muir; Akanimo Okure; Martine Cools; Thomas Danne; Mehul Dattani; Olaf Dekkers; Olaf Hiort; Agnès
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC3.1
Published: 2019-08-22

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A Case of Gonadal Dysgenesis Due to a Novel Homozygous Mutation in NR5A2 Gene | ESPE2018
Friederike Denzer; Christian Denzer; Nadine Hornig; Paul-Martin Holterhus; Olaf Hiort; Martin Wabitsch
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p368.htm
Published: 2018-08-28

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Primary Gonadal Dysgenesis in Male 46,XY Patients with NR5A1 Variants Predominantly Affects Sertoli Cell Function | ESPE2018
Julia Hoppmann; Ralf Werner; Ralf Lunstedt; Wiebke Birnbaum; Otfried Schwab; Louise Marshall; Lutz Wunsch; Olaf Hiort
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p218.htm
Published: 2018-08-28

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