Del Giudice, Ennio

Top Publications

Top Publications Authored or Co-Authored by "Del Giudice, Ennio"

• Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

  Neurology, Volume 73, No. 12, Year 2009, Citations 114
• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

  Human Mutation, Volume 31, No. 5, Year 2010, Citations 95
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  European Journal of Human Genetics, Volume 21, No. 10, Year 2013, Citations 72
• Expanding CEP290 mutational spectrumin ciliopathies

  American Journal of Medical Genetics, Part A, Volume 149, No. 10, Year 2009, Citations 42