檢索結果 - Eva Barroso
- Showing 1 - 4 results of 4
-
1
Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS) 由 Sara Benito‐Sanz, Eva Barroso, Damián Heine‐Suñer, Alfonso Hisado-Oliva, Valeria Romanelli, Jordi Rosell, Ángel Aragonés, María Caimari, Jesús Argente, Judith L. Ross, Andrew R. Zinn, R Gracia, Pablo Lapunzina, Ángel Campos‐Barros, Karen E. Heath
出版 2010Artigo -
2
Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies 由 Eva Barroso, Lara P. Fernández, Roger L. Milne, Guillermo Pita, Elena Sendagorta, U. Floristán, Marta Feito Rodríguez, José Antonio Fernández Avilés, Manuel Martín‐González, José Ignacio Arias, Pilar Zamora, Monserrat Blanco, Pablo Lázaro, Javier Benı́tez, Glòria Ribas
出版 2008Artigo -
3
<i>mTOR</i> mutations in Smith‐Kingsmore syndrome: Four additional patients and a review 由 Gema Gordo, Jair Tenorio, Pedro Arias, Fernando Santos‐Simarro, Sixto García‐Miñaúr, J.C. Moreno, Julián Nevado, Elena Vallespín, Lara Rodríguez‐Laguna, Rafael Mena‐Osuna, Irene Dapía, María Palomares‐Bralo, Ángela del Pozo, Kristina Ibáñez, Juan Carlos Silla-Castro, Eva Barroso, Víctor L. Ruiz‐Pérez, Víctor Martínez‐Glez, Pablo Lapunzina
出版 2017Revisão -
4
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants 由 Beatriz Paumard‐Hernández, Julia Berges‐Soria, Eva Barroso, Carlos I Rivera-Pedroza, Virginia Pérez‐Carrizosa, Sara Benito‐Sanz, Eva López-Messa, Fernando Santos, I. García‐Recuero, A. Romance, Juliana María Ballesta-Martínez, Vanesa López‐González, Ángel Campos‐Barros, Jaime Cruz‐Rojo, Encarna Guillén‐Navarro, Jaime Sánchez del Pozo, Pablo Lapunzina, Sixto García‐Miñaúr, Karen E. Heath
出版 2014Artigo
相關主題
Biology
Gene
Genetics
Medicine
Bioinformatics
Internal medicine
Mutation
Breast cancer
Calcitriol receptor
Cancer
Case-control study
Craniosynostosis
Dysplasia
Endocrinology
Environmental health
Exon
FokI
Gastroenterology
Genetic counseling
Genotype
Growth hormone
Hormone
Idiopathic short stature
Medical genetics
Multiplex ligation-dependent probe amplification
Odds ratio
Oncology
PI3K/AKT/mTOR pathway
Pediatrics
Polymorphism (computer science)