Browsing HVH - Articles científics by Author "Ibáñez, Mariam"
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Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome
Boluda-Navarro, Mireia; Ibáñez, Mariam; Liquori, Alessandro; Franco Jarava, Clara; Martínez Gallo, Mónica; Rodríguez-Vega, Héctor; Colobran Oriol, Roger (Frontiers Media, 2021-03-31)