Publications by authors named "Ismael Ejarque"

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[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].
Ismael Ejarque, José M Millán-Salvador, Silvestre Oltra, José V Pesudo-Martínez, Magdalena Beneyto

Rev Neurol· May 2015

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[The role of primary care in hereditary cancer].
Ismael Ejarque, Miguel García-Ribes, José Vicente Sorlí, Estíbaliz Arenas, Vicente Martín

Aten Primaria· October 2008

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Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.
Ismael Ejarque, Jose T Real, Sergio Martinez-Hervas, F Javier Chaves, Sebastian Blesa

Transl Res· March 2008

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[Family doctors and their responsibilities in clinical genetics].
Ismael Ejarque, Miguel García-Ribes, Vicente Martín

Aten Primaria· March 2007

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New challenges: general practitioners faced with "rare diseases".
Miguel García-Ribes, Ismael Ejarque, Estibaliz Arenas, Vicente Martín

Aten Primaria· April 2006

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[Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population].
Ismael Ejarque, José T Real, Felipe J Chaves, Sebastián Blesa, Verónica González

Med Clin (Barc)· October 2004

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Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
José T Real, Felipe J Chaves, Ismael Ejarque, Ana B García-García, Carmen Valldecabres

Eur J Hum Genet· December 2003

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