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Laura Audí

Showing results (21-30 of 40) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|October 11, 2007
Growth hormone (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH Therapy in Short Small-for-Gestational-Age ChildrenAntonio Carrascosa, Laura Audí, Cristina Esteban, et al.
Medicina Clinica|September 18, 2004
[Association of vitamin D receptor gene polymorphism with type 1 diabetes mellitus in two Spanish populations]Gertrudis Martí, Laura Audí, Cristina Esteban, et al.
Frontiers in Genetics|September 27, 2019
Broad Phenotypes of Disorders/Differences of Sex Development in <i>MAMLD1</i> Patients Through Oligogenic DiseaseChrista E Flück, Laura Audí, Mónica Fernández-Cancio, et al.
Hormone Research|November 6, 2004
Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 geneMónica Fernández-Cancio, Joan Rodó, Pilar Andaluz, et al.
Pediatric Research|December 16, 2016
Nutritional rickets: vitamin D, calcium, and the genetic make-upMohamed El Kholy, Heba Elsedfy, Monica Fernández-Cancio, et al.
The Journal of Clinical Endocrinology and Metabolism|September 28, 2006
Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n = 247) and in an adult control population (n = 289) show increased fl/fl in short SGALaura Audí, Cristina Esteban, Antonio Carrascosa, et al.
Clinical Endocrinology|July 18, 2013
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported casesNúria Camats, Amit V Pandey, Mónica Fernández-Cancio, et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology|April 8, 2014
Woman with virilizing congenital adrenal hyperplasia and Leydig cell tumor of the ovaryRosario Fernández-García Salazar, Carmen Muñoz-Darias, Juan Jesús Haro-Mora, et al.
Pharmaceuticals (Basel, Switzerland)|May 2, 2018
Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase DeficiencyMónica Fernández-Cancio, Núria Camats, Christa E Flück, et al.
Plos One|August 15, 2014
Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesisJana Malikova, Núria Camats, Mónica Fernández-Cancio, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
The Journal of Clinical Endocrinology and Metabolism|October 11, 2007
Growth hormone (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH Therapy in Short Small-for-Gestational-Age ChildrenAntonio Carrascosa, Laura Audí, Cristina Esteban, et al.
Medicina Clinica|September 18, 2004
[Association of vitamin D receptor gene polymorphism with type 1 diabetes mellitus in two Spanish populations]Gertrudis Martí, Laura Audí, Cristina Esteban, et al.
Frontiers in Genetics|September 27, 2019
Broad Phenotypes of Disorders/Differences of Sex Development in <i>MAMLD1</i> Patients Through Oligogenic DiseaseChrista E Flück, Laura Audí, Mónica Fernández-Cancio, et al.
Hormone Research|November 6, 2004
Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 geneMónica Fernández-Cancio, Joan Rodó, Pilar Andaluz, et al.
Pediatric Research|December 16, 2016
Nutritional rickets: vitamin D, calcium, and the genetic make-upMohamed El Kholy, Heba Elsedfy, Monica Fernández-Cancio, et al.
The Journal of Clinical Endocrinology and Metabolism|September 28, 2006
Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n = 247) and in an adult control population (n = 289) show increased fl/fl in short SGALaura Audí, Cristina Esteban, Antonio Carrascosa, et al.
Clinical Endocrinology|July 18, 2013
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported casesNúria Camats, Amit V Pandey, Mónica Fernández-Cancio, et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology|April 8, 2014
Woman with virilizing congenital adrenal hyperplasia and Leydig cell tumor of the ovaryRosario Fernández-García Salazar, Carmen Muñoz-Darias, Juan Jesús Haro-Mora, et al.
Pharmaceuticals (Basel, Switzerland)|May 2, 2018
Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase DeficiencyMónica Fernández-Cancio, Núria Camats, Christa E Flück, et al.
Plos One|August 15, 2014
Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesisJana Malikova, Núria Camats, Mónica Fernández-Cancio, et al.
Pageof 4