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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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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.html
Published: 2019-08-22

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From Pseudohypoparathyroidism to Inactivating PTH/PTHrP Signaling Disorder (iPPSD), a Novel Classification Proposed by the European EuroPHP-Network | ESPE2016
Susanne Thiele; Giovanna Mantovani; Anne Barlier; Paola Bordogna; Francesca M Elli; Kathleen Freson; Intza Garin; Virginie Grybe
http://abstracts.eurospe.org/hrp/0086/hrp0086fc2.2.htm
Published: 2016-08-19

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Clinical Characteristics and Molecular Genetic Analysis of Six Patients with Pancreas Aplasia and Neonatal Diabetes: Predominance of PTF1A-Enhancer Mutations | ESPE2015
Klemens Raile; Maolian Gong; Francesca Spagnoli; Wei Chen; Oliver Hummel; Feiza Darendeliler; Ece Bober; Ayhan Abaci; Winfried K
http://abstracts.eurospe.org/hrp/0084/hrp0084fc3.3.htm
Published: 2015-08-26

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Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement | ESPE2018
Giovanna Mantovani; Murat Bastepe; David Monk; Sanctis Luisa de; Susanne Thiele; Alessia Usardi; Faisal Ahmed; Roberto Bufo; Tim
http://abstracts.eurospe.org/hrp/0089/hrp0089rfc11.1.htm
Published: 2018-08-28

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