Lourdes
Loidi Fernández
![Foto de Lourdes](/img/nophoto.png)
![Foto de Fundación Pública Galega de Medicina Xenómica](/img/noimage_org.png)
Fundación Pública Galega de Medicina Xenómica
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (8)
2024
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Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases
Journal of Clinical Medicine, Vol. 13, Núm. 11
2023
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Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)
International Journal of Dermatology
2018
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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
Human Mutation, Vol. 39, Núm. 8, pp. 1126-1138
2017
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Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene
Genes and Immunity, Vol. 18, Núm. 3, pp. 197-199
2013
2010
2008
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Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249
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Serum TNF-α levels in relation to alcohol consumption and common TNF gene polymorphisms
Alcohol, Vol. 42, Núm. 6, pp. 513-518