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Now showing items 11-20 of 99

Artículo

Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype

Flanagan, S. E.; Mackay, D. J. G.; Greeley, S. A. W.; McDonald, T. J.; Mericq, Verónica; Hassing, J.; Richmond, E. J.; Martin, W. R.; Acerini, C.; Kaulfers, A. M.; Flynn, D. P.; Popovic, J.; Sperling, M. A.; Hussain, K.; Ellard, S.; Hattersley, A. T. (Springer, 2013)

Artículo

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Nikkel, Sarah M.; Dauber, Andrew; Munnik, Sonja de; Connolly, Meghan; Hood, Rebecca L.; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J.; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E.; Balestri, Paolo; Ben Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; Santos da Cunha, Bruna; Delaney, Louisa A.; Destrée, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M.; Héron, Delphine; Hoischen, Alexander; Honey, Engela Magdalena; Hoefsloot, Lies H.; Ibrahim, Jennifer; Jacob, Claire M.; Kant, Sarina G.; Kim, Chong Ae; Kirk, Edwin P.; Knoers, Nine V. A.; Lacombe, Didier; Lee, Chung; Lo, Ivan F.; Lucas, Luiza S.; Mari, Francesca; Mericq, Verónica; Moilanen, Jukka S.; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T.; Pope, Kate; Price, Susan; Renieri, Alessandra; Sá, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L.; Simon, Marleen; Slavotinek, Anne; Temple, I. Karen; Burgt, Ineke van der; Vries, Bert B. A. de; Weisfeld Adams, James D.; Whiteford, Margo L.; Wierczorek, Dagmar; Wit, Jan M.; Fung On Yee, Connie; Beaulieu, Chandree L.; White, Sue M.; Bulman, Dennis E.; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M. (BioMed Central, 2013)

Artículo

Accelerated early pubertal progression, ovarian morphology, and ovarian function in prospectively followed low birth weight (LBW) girls

Hernández, María Isabel; Martínez Aguayo, Alejandro; Cavada Chacón, Gabriel; Peña Novoa, Verónica; Trejo, León; Ávila, Alejandra; Salazar Cornejo, Teresa; Asenjo, Sylvia; Iñíguez Vila, Germán; Rey, Rodolfo; Mericq, Verónica (De Gruyter, 2013)

Artículo

IGF-IR signal transduction protein content and its activation by IGF-I in human placentas: relationship with gestational age and birth weight

Iñíguez Vila, Germán; Castro, Juan José; García Mora, Mirna; Kakarieka, Elena; Johnson Pena, María Cecilia; Cassorla Goluboff, Fernando; Mericq, Verónica (PLOS One, 2014)

Artículo

Growth Retardation in Children with Kidney Disease

Salas del Campo, Paulina; Pinto, Viola; Rodríguez, Josefina; Zambrano, María José; Mericq, Verónica (Hindawi Publishing Corporation, 2013-08-13)

Artículo

Ultrasensitive estrogen levels at 7 years of age predict earlier thelarche: evidence from girls of the growth and obesity Chilean cohort

Pereira Scalabrino, Ana; Corvalán Aguilar, Camila; Uauy Dagach-Imbarack, Ricardo; Klein, Karen O.; Mericq, Verónica (Bioscientifica Ltd, 2015)

Artículo

An XRCC4 Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome

Bruin, Christiaan de; Mericq, Verónica; Andrew, Shayne F.; Duyvenvoorde, Hermine A. van; Verkaik, Nicole S.; Losekoot, Monique; Porollo, Aleksey; Garcia, Hernán; Kuang, Yi; Hanson, Dan; Clayton, Peter; Gent, Dik C. van; Wit, Jan M.; Hwa, Vivian; Dauber, Andrew (The Endocrine Society, 2015)

Artículo

Haplotype Analysis of the Promoter Region of Phosphodiesterase Type 8B (PDE8B) in Correlation with Inactivating PDE8B Mutation and the Serum Thyroid-Stimulating Hormone Levels

Horvath, Anelia; Faucz, Fabio; Finkielstain, Gabriela P.; Nikita, Maria Eleni; Rothenbuhler, Anya; Almeida, Madson; Mericq, Verónica; Stratakis, Constantine A. (Mary Ann Liebert, Inc., 2010)

Artículo

Leuprolide acetate gonadotrophin response patterns during female puberty

Martínez Aguayo, Alejandro; Hernández Cárdenas, María Isabel; Capurro Spadaro, María Teresa; Peña Novoa, Verónica; Ávila, Alejandra; Salazar, T.; Asenjo, S.; Iñíguez Vila, Germán; Mericq, Verónica (Blackwell, 2010)

Artículo

Expanding the Phenotype and Genotype of Female GnRH Deficiency

Shaw, Natalie D.; Seminara, Stephanie B.; Welt, Corrine K.; Au, Margaret G.; Plummer, Lacey; Hughes, Virginia A.; Dwyer, Andrew A.; Martin, Kathryn A.; Quinton, Richard; Mericq, Verónica; Merino, Paulina M.; Gusella, James F.; Crowley, William F. Jr.; Pitteloud, Nelly; Hall, Janet E. (2011-03)

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