Publicaciones

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis

Santín S, Ars E, Rossetti S, Salido E, Silva I, García-Maset R, Giménez I, Ruíz P, Mendizábal S, Luciano Nieto J, Peña A, Camacho JA, Fraga G, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Sánchez-Moreno A, Pintos G, Mirapeix E, Fernández-Llama P, Ballarín J, Torra R; FSGS Study Group, Zamora I, López-Hellin J,…

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome