Hospital Central Especializado de Criancas Maria Pia

Top Publications

Top Publications Authored or Co-Authored in "Hospital Central Especializado de Criancas Maria Pia"

• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

  Nature Genetics, Volume 44, No. 2, Year 2012, Citations 169
• Distinguishing the four genetic causes of Jouberts syndrome-related disorders

  Annals of Neurology, Volume 57, No. 4, Year 2005, Citations 102
• The PedPAD study: Boys predominate in the hypogammaglobulinaemia registry of the ESID online database

  Clinical and Experimental Immunology, Volume 176, No. 3, Year 2014, Citations 48
• Homozygosity mapping of a third Joubert syndrome locus to 6q23

  Journal of Medical Genetics, Volume 41, No. 4, Year 2004, Citations 37