CLINICAL PEDIATRICS AND RARE DISEASES
Instituto de Investigación Sanitaria Biocruces Bizkaia
Barakaldo, EspañaPublications in collaboration with researchers from Instituto de Investigación Sanitaria Biocruces Bizkaia (7)
2023
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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106
2022
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Incidence and Prevalence of Children's Diffuse Lung Disease in Spain
Archivos de Bronconeumologia, Vol. 58, Núm. 1, pp. 22-29
2021
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Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience
Children, Vol. 8, Núm. 11
2020
2013
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Brachydactyly E: Isolated or as a feature of a syndrome
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
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Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration
American Journal of Medical Genetics, Part A, Vol. 161, Núm. 9, pp. 2363-2368
2010
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Towards an Effective Knowledge Translation of Clinical Guidelines and Complementary Information
DISTRIBUTED COMPUTING AND ARTIFICIAL INTELLIGENCE