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Showing page 1 of results 1 - 7 of about 7 pages

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Clinical Course in a Girl with Two hTPO Mutations - Homozygous c.1268G>A (p.Gly393Arg) and Heterozygous c.208C>G (p.Ala70Pro): 27 Years of Follow Up | ESPE2018
Iva Stoeva; Kalina Mihova; Reni Koleva; Mitko Zheliaskov; Boris Stoilov; Radka Kaneva
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p388.htm
Published: 2018-08-28

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A Novel Deadly Variant in the TP53 Gene Causing Li-Fraumeni Syndrome. The Importance of Clinical Awareness and the Contribution of Molecular Diagnosis in Active Prevention Within Families with Multiple Tumor Incidents at a Young Age | ESPE2018
Christina Bothou; Georgios P Spyridis; Dionysios A Papantonatos; Constantine A Stratakis; Dimitrios T Papadimitriou
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p187.htm
Published: 2018-08-28

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A Novel Germline DICER1 Mutation in a Girl with Multinodular Goiter and Ovarian Sertoli-Leydig Cell Tumor | ESPE2018
Nikolaos Settas; Lina Michala; Annabel Berthon; Fabio Faucz; Alexandra Iliadi; Anna Gkika; Catherine Dacou-Voutetakis; Constanti
http://abstracts.eurospe.org/hrp/0089/hrp0089rfc14.4.htm
Published: 2018-08-28

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The Role of GPR101 in Human Growth | ESPE2016
Constantine Stratakis; Fabio Faucz; Giampaolo Trivellin
http://abstracts.eurospe.org/hrp/0086/hrp0086s7.3.htm
Published: 2016-08-19

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Nephrogenic Diabetes Insipidus with Partial Response to Ddavp Caused by a Novel AVPR2 Splice Site Mutation | ESPE2015
Marie Helene Schernthaner-Reiter; David Adams; Ola Nilsson; Giampaolo Trivellin; Mary Scott Ramnitz; Margarita Raygada; Gretchen
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-530.htm
Published: 2015-08-26

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Rare Disease Registries: Perception of Parents and Young People | ESPE2014
Arundathi Jayasena; Miriam Muscarella; Faisal Ahmed
http://abstracts.eurospe.org/hrp/0082/hrp0082p2-d2-581.htm
Published: 2014-08-28

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Clinical, Biological and Genetic Characteristics of 48 Pediatric Patients with Micronodular Adrenal Hyperplasia (MAH) | ESPE2014
Anya Rothenbuhler; Evgenia Gourgari; Maya Lodish; Constantine Stratakis
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d3-14.htm
Published: 2014-08-28

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