Publikationen in Zusammenarbeit mit Forschern von 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