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Showing page 1 of results 1 - 10 of about 12 pages

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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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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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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.html
Published: 2019-08-22

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Mutational Analysis of SRD5A2 and AR Genes in Indian Children with 46 XY Disorders of Sex Development | ESPE2018
Anil Kumar; Mohd Faruq; Ralf Werner; Rajni Sharma; Vandana Jain
http://abstracts.eurospe.org/hrp/0089/hrp0089lb-p7.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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Reduced Androgen Receptor Expression in Patients with 45,X/46,XY Mosaicism | ESPE2018
Nadine Hornig; Jeta Demiri; Eva Murga; Almuth Caliebe; Hans-Udo Schweikert; Laura Audi; Ralf Werner; Olaf Hiort; Paul-Martin Hol
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p217.htm
Published: 2018-08-28

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SDgeneMatch, A New Tool to Aid the Identification of the Genetic Causes of DSD | ESPE2018
Ridder Jeroen De; Anu Bashamboo; Elfride De Baere; Nils Krone; Rod Mitchell; Ewa Rajpert-De Meyts; Ed Tobias; Leendert Looijenga
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p216.htm
Published: 2018-08-28

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Functional Studies of a New Mutation in the LH/CG Receptor Gene Identified in 2 Sisters with 46,XY DSD | ESPE2016
Susanne Flieger; Nina Neuhaus; Tim Strom; Ivo Henrichs; Olaf Johren; Jorg Gromoll; Olaf Hiort; Ralf Werner
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p365.htm
Published: 2016-08-19

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Mutations at the SF-1 Ligand-Binding Domain Can Lead to Different Effects on DNA Binding: Report of Two Novel Mutations | ESPE2016
Helena Campos Fabbri; Ralf Werner; Gil Guerra-Junior; Andrea Trevas Maciel-Guerra; Juliana Gabriel Ribeiro de Andrade; Olaf Hior
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p355.htm
Published: 2016-08-19

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