Publications in collaboration with researchers from Essen University Hospital (4)

2013

  1. A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    Human Molecular Genetics, Vol. 22, Núm. 25, pp. 5121-5135

2012

  1. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

    American Journal of Human Genetics, Vol. 90, Núm. 2, pp. 369-377

  2. Miller (genéeacute;wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

    Human Molecular Genetics, Vol. 21, Núm. 18, pp. 3969-3983

2009

  1. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from treacher collins syndrome

    American Journal of Medical Genetics, Part A, Vol. 149, Núm. 5, pp. 837-843