Germinal mosaicism in Simpson-Golabi-Behmel syndrome
Romanelli, V, Arroyo, I, Rodriguez, JI, Magano, L, Arias, P, Incera, I, Gracia-Bouthelier, R, Lapunzina, P
Published in Clinical genetics (01.10.2007)
Published in Clinical genetics (01.10.2007)
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Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development
Audi, L, Fernández-Cancio, M, Carrascosa, A, Andaluz, P, Torán, N, Piró, C, Vilaró, E, Vicens-Calvet, E, Gussinyé, M, Albisu, M. A, Yeste, D, Clemente, M, Hernández de la Calle, I, Del Campo, M, Vendrell, T, Blanco, A, Martínez-Mora, J, Granada, M. L, Salinas, I, Forn, J, Calaf, J, Angerri, O, Martínez-Sopena, M. J, del Valle, J, García, E, Gracia-Bouthelier, R, Lapunzina, P, Mayayo, E, Labarta, J. I, Lledó, G, Sánchez del Pozo, J, Arroyo, J, Pérez-Aytes, A, Beneyto, M, Segura, A, Borrás, V, Gabau, E, Caimarí, M, Rodríguez, A, Martínez-Aedo, M. J, Carrera, M, Castaño, L, Andrade, M, Bermúdez de la Vega, J. A
Published in The journal of clinical endocrinology and metabolism (01.04.2010)
Published in The journal of clinical endocrinology and metabolism (01.04.2010)
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Evaluation of weight, height and BMI in children, adolescents and young adults from the Community of Madrid
López de Lara, D, Santiago Paniagua, P, Tapia Ruiz, M, Rodríguez Mesa, M D, Gracia Bouthelier, R, Carrascosa Lezcano, A
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.12.2010)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.12.2010)
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Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?
Climent Alcalá, F J, Molina Rodríguez, M A, González Casado, I, Osona Bris, L, Salamanca Fresno, L, Guerrero-Fernández, J, Martínez-Frías, M L, Gracia Bouthelier, R
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2010)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2010)
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Respuesta a «Talla baja idiopática
Carrascosa, A, Fernández Longás, A, Gracia Bouthelier, R, López Siguero, J.P, Pombo Arias, M, Yturriaga, R
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.04.2012)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.04.2012)
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Optimization of treatment in Turner's syndrome
Gracia Bouthelier, R, Oliver Iguacel, A, Gonzalez Casado, Isabel, Alcalde de Alvaré, A
Published in Journal of pediatric endocrinology & metabolism : JPEM (01.03.2004)
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Published in Journal of pediatric endocrinology & metabolism : JPEM (01.03.2004)
Journal Article
Hipocondroplasia y retraso mental
Rodríguez Delgado, J, Guerrero Fernández, J, Gracia Bouthelier, R
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.06.2008)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.06.2008)
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Valoración del peso, talla e IMC en niños, adolescentes y adultos jóvenes de la Comunidad Autónoma de Madrid
López de Lara, D, Santiago Paniagua, P, Tapia Ruiz, M, Rodríguez Mesa, M.D, Gracia Bouthelier, R, Carrascosa Lezcano, A
Published in Anales de pediatría (Barcelona, Spain : 2003) (2010)
Published in Anales de pediatría (Barcelona, Spain : 2003) (2010)
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Tumoración hipofisaria secundaria a hipotiroidismo primario: un caso de hiperplasia tirotropa que simula un adenoma hipofisario
Guerrero-Fernández, J, Bezanilla López, C, Orio Hernández, M, Carceller Benito, F, Heredero Sanz, J.J, Gracia Bouthelier, R
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2008)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2008)
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Journal Article
Deleción 9p-. Disgenesia gonadal asociada a retraso mental e hipoplasia del cuerpo calloso. ¿Síndrome de genes contiguos?
Climent Alcalá, F.J, Molina Rodríguez, M.A, González Casado, I, Osona Bris, L, Salamanca Fresno, L, Guerrero-Fernández, J, Martínez-Frías, M.L, Gracia Bouthelier, R
Published in Anales de pediatría (Barcelona, Spain : 2003) (2010)
Published in Anales de pediatría (Barcelona, Spain : 2003) (2010)
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Journal Article
Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium
Fofanova-Gambetti, Olga V, Hwa, Vivian, Wit, Jan M, Domene, Horacio M, Argente, Jesús, Bang, Peter, Högler, Wolfgang, Kirsch, Susan, Pihoker, Catherine, Chiu, Harvey K, Cohen, Laurie, Jacobsen, Christina, Jasper, Hector G, Haeusler, Gabriele, Campos-Barros, Angel, Gallego-Gómez, Elena, Gracia-Bouthelier, Ricardo, van Duyvenvoorde, Hermine A, Pozo, Jesús, Rosenfeld, Ron G
Published in The journal of clinical endocrinology and metabolism (01.09.2010)
Published in The journal of clinical endocrinology and metabolism (01.09.2010)
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