Browsing by Author "7d081ece-b187-4859-abc3-b5e4102baaa4"

Now showing items 1-3 of 3

    • Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing ... 
      Romero, Pablo T.; Donoso, Rodrigo; López, Pamela; Miranda, Ana; Rodríguez, Leandro; Chrzanowsky, Dominique; Asenjo, Maria S.; Burgos, Gonzalo; Villegas, Pablo; Desir, Julie; Moya, Graciela; Herrera, Luisa M. (Taylor and Francis Ltd, 2019)
      Background: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which ...
    • Monocular nystagmus in a patient with 
      Tello, Javiera; Ruiz, Isadora; Herrera, Luisa; Miranda, Ana; Alid, Paulina; Troncoso, Mónica (American Academy of Neurology, 2019)
      Monocular nystagmus is a rare condition that occurs in limited number of disorders, such as spasmus nutans, multiple sclerosis, and alternating hemiplegia of childhood (AHC).1 AHC is a neurodevelopmental disorder ...
    • Native American gene flow into Polynesia predating Easter Island settlement 
      Ioannidis, Alexander G.; Blanco Portillo, Javier; Sandoval, Karla; Hagelberg, Erika; Miquel-Poblete, Juan Francisco; Moreno Mayar, J. Víctor; Rodríguez Rodríguez, Juan Esteban; Auckland, Kathryn; Parks, Tom; Robson, Kathryn; Hill, Adrian V. S.; Ávila Arcos, María C.; Sockell, Alexandra; Homburger, Julian R; Wojcik, Genevieve L.; Barnes, Kathleen C.; Herrera, Luisa M.; Berríos, Soledad; Acuña, Mónica; Llop, Elena; Eng, Celeste; Huntsman, Scott; Burchard, Esteban G.; Gignoux, Christopher R.; Cifuentes, Lucía O.; Verdugo Salgado, Ricardo; Moraga Vergara, Mauricio; Mentzer, Alexander J.; Bustamante, Carlos D.; Moreno Estrada, Andrés (Nature, 2020)
      The possibility of voyaging contact between prehistoric Polynesian and Native American populations has long intrigued researchers. Proponents have pointed to the existence of New World crops, such as the sweet potato and ...