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Horacio M. Domené
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Journal Articles

Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System

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Subject Area:
Endocrinology , Women's and Children's Health
Horacio M. Domené, Paula A. Scaglia, Alicia S. Martínez, Ana C. Keselman, Liliana M. Karabatas, Viviana R. Pipman, Sonia V. Bengolea, María C. Guida, María G. Ropelato, María G. Ballerini, Eva M. Lescano, Miguel A. Blanco, Juan J. Heinrich, Rodolfo A. Rey, Héctor G. Jasper
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 80 (6): 413–423.
https://doi.org/10.1159/000355412
Published Online: 05 December 2013
View articletitled, Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System
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Journal Articles

Novel Acid-Labile Subunit ( IGFALS ) Mutation p.T145K (c.434C>A) in a Patient with ALS Deficiency, Normal Stature and Immunological Dysfunction

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Subject Area:
Endocrinology , Women's and Children's Health
Felix Schreiner, Stefan Schoenberger, Bernhard Koester, Horacio M. Domené, Joachim Woelfle
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 80 (6): 424–430.
https://doi.org/10.1159/000355927
Published Online: 27 November 2013
View articletitled, Novel Acid-Labile Subunit ( IGFALS ) Mutation p.T145K (c.434C>A) in a Patient with ALS Deficiency, Normal Stature and Immunological Dysfunction
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Journal Articles

Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences

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Subject Area:
Endocrinology , Women's and Children's Health
Horacio M. Domené, Vivian Hwa, Jesús Argente, Jan M. Wit, Cecilia Camacho-Hübner, Héctor G. Jasper, Jesús Pozo, Hermine A. van Duyvenvoorde, Shoshana Yakar, Olga V. Fofanova-Gambetti, Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Hormone Research (2009) 72 (3): 129–141.
https://doi.org/10.1159/000232486
Published Online: 01 September 2009
View articletitled, Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences
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Journal Articles

Normal Growth Spurt and Final Height despite Low Levels of All Forms of Circulating Insulin-Like Growth Factor-I in a Patient with Acid-Labile Subunit Deficiency

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Subject Area:
Endocrinology , Women's and Children's Health
Horacio M. Domené, Alicia S. Martínez, Jan Frystyk, Sonia V. Bengolea, María G. Ropelato, Paula A. Scaglia, Jian-Wen Chen, Carsten Heuck, Ole D. Wolthers, Juan J. Heinrich, Héctor G. Jasper
Journal: Hormone Research in Paediatrics
Hormone Research (2007) 67 (5): 243–249.
https://doi.org/10.1159/000098479
Published Online: 10 January 2007
View articletitled, Normal Growth Spurt and Final Height despite Low Levels of All Forms of Circulating Insulin-Like Growth Factor-I in a Patient with Acid-Labile Subunit Deficiency
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Journal Articles

The C105fs114X Is the Prevalent Thyrotropin Beta-Subunit Gene Mutation in Argentinean Patients with Congenital Central Hypothyroidism

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Subject Area:
Endocrinology , Women's and Children's Health
Horacio M. Domené, Laura Gruñeiro-Papendieck, Ana Chiesa, Sonia Iorcansky, Viviana C. Herzovich, Regina Papazian, Verónica Forclaz, Laura Prieto, Gabriela Sansó, Paula Scaglia, Mónica Bre, Alfredo Chamoux, Juan J. Heinrich
Journal: Hormone Research in Paediatrics
Hormone Research (2004) 61 (1): 41–46.
https://doi.org/10.1159/000075196
Published Online: 02 March 2004
View articletitled, The C105fs114X Is the Prevalent Thyrotropin Beta-Subunit Gene Mutation in Argentinean Patients with Congenital Central Hypothyroidism
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