Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) Are Two New Mutations of Lmx1a Causing Severe Cochlear and Vestibular Defects

por Steffes, Georg, Lorente-Cánovas, Beatriz, Pearson, Selina, Brooker, Rachael H., Spiden, Sarah, Kiernan, Amy E., Guénet, Jean-Louis, Steel, Karen P.
Publicado 2012

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings

por Sagi, Satyanarayana V, Joshi, Hareesh, Whiles, Emily, Hikmat, Mondy, Puthi, Vijith R, MacDougall, Jane, Spiden, Sarah L, Fuller, Gavin, Park, Soo-Mi, Oyibo, Samson O
Publicado 2020

The Novel Mouse Mutation Oblivion Inactivates the PMCA2 Pump and Causes Progressive Hearing Loss

por Spiden, Sarah L., Bortolozzi, Mario, Di Leva, Francesca, de Angelis, Martin Hrabé, Fuchs, Helmut, Lim, Dmitry, Ortolano, Saida, Ingham, Neil J., Brini, Marisa, Carafoli, Ernesto, Mammano, Fabio, Steel, Karen P.
Publicado 2008