Organización Sanitaria Integrada Ezkerraldea-Enkarterri-Cruces
Organización de Osakidetza
University of Strasbourg
Estrasburgo, FranciaPublikationen in Zusammenarbeit mit Forschern von University of Strasbourg (7)
2023
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Evaluating the Construct of Damage in Systemic Lupus Erythematosus
Arthritis Care and Research, Vol. 75, Núm. 5, pp. 998-1006
2021
2016
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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
2014
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Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step pcrbased enrichment in combination with next-generation sequencing
Diabetes Care, Vol. 37, Núm. 2, pp. 460-467
2010
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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
Human Mutation, Vol. 31, Núm. 2, pp. 113-126
2005
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Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999
Revue d'Epidemiologie et de Sante Publique
2004
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Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe
Prenatal Diagnosis, Vol. 24, Núm. 11, pp. 908-912