Research Output 2003 2019

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Letter
2016
1 Citation (Scopus)

Transcriptomic analysis of skin in a case of ichthyosis Curth–Macklin caused by a KRT1 mutation

Ortega-Recalde, O., Silgado, D., Fetiva, C., Fonseca, D. J. & Laissue, P., Dec 1 2016, In : British Journal of Dermatology. p. 1372-1375 4 p.

Research output: Contribution to journalLetter

2013
9 Citations (Scopus)

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene

Fonseca, D. J., Rojas, R. F., Vergara, J. I., Ríos, X., Uribe, C., Chávez, L., Velandia, F., Vargas, C. I., Restrepo, C. M. & Laissue, P., Feb 1 2013, In : British Journal of Dermatology. p. 456-458 3 p.

Research output: Contribution to journalLetter

2012
3 Citations (Scopus)

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

Fonseca, D. J., Prada, C. F., Siza, L. M., Angel, D., Gomez, Y. M., Restrepo, C. M., Douben, H., Rivadeneira, F., de Klein, A. & Laissue, P., Mar 1 2012, In : American Journal of Medical Genetics, Part A. p. 689-693 5 p.

Research output: Contribution to journalLetter