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Showing page 1 of results 1 - 5 of about 5 matches for "loidi-lourdes"

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Genetic Study of Osteogenesis Imperfecta: Two Novel Mutations in COL1A1 and COL1A2
Lidia Castro-Feijoo; Lourdes Loidi; Nuria Quiroga; Paloma Cabanas; Claudia Heredia; Rosaura Leis; Francisco Barros; Manuel Pombo
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d3-50.htm
Published: 2014-08-28

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NPR2 Gene Mutations Associated with Acromesomelic Dysplasia Maroteaux Type are Mostly Unique to Families
Lidia Castro-Feijoo; Jesus Barreiro; Encarna Guillen-Navarro; Hubert Journel; Emma Wakeling; Sujatha Jagadeesh; Martine LeMerrer
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p799.htm
Published: 2016-08-19

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Functional and structural characterisation of three CYP21A2 mutations associated with simple virilising and non classic congenital adrenal hyperplasia
Vivek Dhir; Caroline Bleicken; Lourdes Loidi; Silvia Parajes; Celse Quinteiro; Fernando Dominguez; Joachim Grotzinger; Wolfgang
http://www.endocrine-abstracts.org/ea/0015/ea0015p318.htm
Published: 2008-04-01

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Functional characterisation of 21-hydroxylase gene mutations is a valuable tool for genetic counselling: in vitro and in silico analysis of six novel CYP21A2 sequence variants
Silvia Parajes; Lourdes Loidi; Vivek Dhir; Marcos Morey; Fernando Dominguez; Wiebke Arlt; Nils Krone
http://www.endocrine-abstracts.org/ea/0021/ea0021p364.htm
Published: 2010-03-31

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Our experience in the evaluation criteria used for the genetic study of patients suspected of being affected by multiple endocrine neoplasia type 1 and mutational spectrum
Josep Oriola; Antoni Sitges; Albert Goday; S Martinez; Carles Villabona; Jose Manuel Gomez; Lourdes Loidi; Isabel Salinas; Manel
http://www.endocrine-abstracts.org/ea/0035/ea0035p515.htm
Published: 2014-04-17

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