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A Novel Mutation in the Thyroglobulin Gene Leading to Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant | ESPE2019
Eve Stern; Eran Kassif; Nadia Schoenmakers; Noah Gruber; Orit Pinhas-Hamiel; Yonatan Yeshayahu
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC5.5
Published: 2019-08-22

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A Novel Mutation in the Thyroglobulin Gene Leading to Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant | ESPE2019
Eve Stern; Eran Kassif; Nadia Schoenmakers; Noah Gruber; Orit Pinhas-Hamiel; Yonatan Yeshayahu
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc5.5.html
Published: 2019-08-22

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A Novel Mutation of IGSF1 Gene | ESPE2018
Ellada Sotiridou; Nadia Schoenmakers; Vipan Datta
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p259.htm
Published: 2018-08-28

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Severe 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia and Congenital Hypothyroidism Due to Thyroglobulin Mutations in a Single Family: Two Distinct Genetic Disorders with Phenotypic Variability within a Single Family | ESPE2014
Caroline Ponmani; Abigail Atterbury; Senthil Seniappan; Nadia Schoenmakers; Adeline K Nicholas; Krishna Chatterjee; Mehul Dattan
http://abstracts.eurospe.org/hrp/0082/hrp0082p2-d2-274.htm
Published: 2014-08-28

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Genotype and Phenotype Characterization of a Series of Italian Patients Affected with Idiopatic Central Hypothyroidism | ESPE2014
Marco Bonomi; Paolo Duminuco; Alessandro Salvatoni; Mario Maggi; Fabio Buzi; Alba Pilotta; Giorgio Radetti; Paolo Beck-Peccoz; I
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d1-239.htm
Published: 2014-08-28

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