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

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Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis | ESPE2019
Ana Canton; Virginie Steunou; Vinicius Brito; Sobrier Marie Laure; Luciana Montenegro; Danielle Bessa; Berenice B Mendonca; Irè
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC8.2
Published: 2019-08-22

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Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis | ESPE2019
Ana Canton; Virginie Steunou; Vinicius Brito; Sobrier Marie Laure; Luciana Montenegro; Danielle Bessa; Berenice B Mendonca; Irè
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc8.2.html
Published: 2019-08-22

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Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients | ESPE2018
Enzo Cohen; Sabrina Belkacem; Soumeya Fedala; Nathalie Collot; Eliane Khallouf; Florence Dastot; Michel Polak; Philippe Duquesno
http://abstracts.eurospe.org/hrp/0089/hrp0089fc9.2.htm
Published: 2018-08-28

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Contribution of GHR and IGFALS Mutations to Growth Hormone Resistance - Identification of New Variants and Impact on the Inheritance Pattern | ESPE2016
Marie Legendre; Florence Dastot; Nathalie Collot; Philippe Duquesnoy; Enzo Cohen; Marie-Laure Sobrier; Paola Adiceam; Donald And
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc14.2.htm
Published: 2016-08-19

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Important Contribution of GH, GHRHR and GHSR Mutations in Isolated Growth Hormone Deficiency with a Normal Location of the Posterior Pituitary -Functional Characterization of New Variants | ESPE2016
Enzo Cohen; Marie-Laure Sobrier; Florence Dastot; Nathalie Collot; Sophie Rose; Aude Soleyan; Marie-Pierre Vie-Luton; Philippe D
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc14.1.htm
Published: 2016-08-19

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Spectrum of LHX4 Mutations in a Cohort of 510 Patients with Hypopituitarism | ESPE2016
Enzo Cohen; Nathalie Collot; Sophie Rose; Florence Dastot; Philippe Duquesnoy; Bruno Copin; Anne-Marie Bertrand; Frederic Brioud
http://abstracts.eurospe.org/hrp/0086/hrp0086fc3.2.htm
Published: 2016-08-19

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Functional Characterisation of a POU1F1 Mutation Unexpectedly Associated with Isolated Growth Hormone Deficiency (IGHD): A Novel Aetiology of IGHD | ESPE2015
Marie-Laure Sobrier; Yu-Cheng Tsai; Christelle Perez; Bruno Leheup; Tahar Bouceba; Philippe Duquesnoy; Daria Sizova; Stephen Lie
http://abstracts.eurospe.org/hrp/0084/hrp0084fc11.2.htm
Published: 2015-08-26

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