Browse by Author "Pombo Arias, Manuel"

Now showing items 1-12 of 12

A cross-sectional study of cryptorchidism in children: testicular volume and hormonal function at 18 years of age

2015- Tojo Sierra, Rafael; Pombo Arias, Manuel; Bautista Casasnovas, Adolfo; Méndez Gallart, Roberto; Estévez Martínez, Elina; [et al.]
Acromesomelic dysplasia type Maroteaux: Broadening the spectrum of NPR2 mutations

2012- Leis Trabazo, María Rosaura; Loidi Fernández, Lourdes; Pombo Arias, Manuel; Cabanas Rodríguez, Paloma; Castro Feijoo, Lidia; [et al.]
Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

2011- Couce Pico, María Luz; Gómez Lado, María del Carmen; Pombo Arias, Manuel; Cabanas Rodríguez, Paloma; Castro Feijoo, Lidia; [et al.]
Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes.

2011- Gómez-Carballa, Alberto; Cerezo, María; Balboa Beltrán, Emilia; Heredia Ramírez, Claudia Emilia; Castro Feijoo, Lidia; [et al.]
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

2011- Bernabeu Morón, Ignacio; Loidi Fernández, Lourdes; Pombo Arias, Manuel; Cabanas Rodríguez, Paloma; Castro Feijoo, Lidia; [et al.]
Genetic study of osteogenesis imperfecta: Two novel mutations in COL1A1 and COL1A2

2014- Leis Trabazo, María Rosaura; Barros Angueira, Francisco; Loidi Fernández, Lourdes; Pombo Arias, Manuel; Cabanas Rodríguez, Paloma; [et al.]
Idiopathic short stature: Final results of the growth evolution and analysis of the GH1 GHR and IGF1 genes in a control study with therapeutic intervention

2013- Leis Trabazo, María Rosaura; Loidi Fernández, Lourdes; Pombo Arias, Manuel; Cabanas Rodríguez, Paloma; Castro Feijoo, Lidia; [et al.]
LEOPARD syndrome: Clinical characteristics and molecular study

2011- Barros Angueira, Francisco; Balboa Beltran, Emilia; Pombo Arias, Manuel; Cabanas Rodríguez, Paloma; Castro Feijoo, Lidia; [et al.]
Perturbadores endocrinos

2014- Pombo Arias, Manuel
Rasopathies: Assessment of growth, genetic study, genotype-phenotype correlation and therapeutic response to GH in noonan syndrome

2014- Barros Angueira, Francisco; Pombo Arias, Manuel; Cabanas Rodríguez, Paloma; Castro Feijoo, Lidia; Barreiro Conde, Jesús [et al.]
Respuesta a «Talla baja idiopática»

2012- Pombo Arias, Manuel
Talla baja idiopática. Revisión y puesta al día.

2011- Pombo Arias, Manuel