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Browsing by author "Hernando, Inés"

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    • Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders 

      Lorca Gutiérrez, RebecaUniovi authority; Pannone, L.; Cuesta Llavona, E.; Bocchinfuso, G.; Rodríguez Reguero, José JuliánUniovi authority; Carpentieri, G.; Hernando, Inés; Flex, E.; Tartaglia, M.; Coto García, EliecerUniovi authority; Gómez de Oña, JuanUniovi authority; Martinelli, S. (2021)
    • A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients 

      Tavira Iglesias, BeatrizUniovi authority; Gómez de Oña, JuanUniovi authority; Málaga Guerrero, SerafínUniovi authority; Santos Rodríguez, FernandoUniovi authority; Fernández Aracama, Javier; Alonso González, BelénUniovi authority; Iglesias, Sara; Benavides, Ana; Hernando, Inés; Plasencia, Ana; Álvarez Martínez, María VictoriaUniovi authority; Coto García, EliecerUniovi authority (2015)
    • PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome 

      Coto García, EliecerUniovi authority; Fernández Toral, JoaquínUniovi authority; Menéndez, M. J.; Hernando, Inés; Plasencia, Ana; Benavides, Ana; López Larrea, CarlosUniovi authority (1995)
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