Publicaciones en colaboración con investigadores/as de University of Michigan–Ann Arbor (2)

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

2010

  1. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

    Nature Genetics, Vol. 42, Núm. 2, pp. 175-180