Delrue, Marie Ange

Top Publications

Top Publications Authored or Co-Authored by "Delrue, Marie Ange"

• RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

  Human Mutation, Volume 34, No. 12, Year 2013, Citations 221
• New insights into genotype-phenotype correlation for GLI3 mutations

  European Journal of Human Genetics, Volume 23, No. 1, Year 2015, Citations 90
• Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

  Clinical Genetics, Volume 84, No. 6, Year 2013, Citations 61
• Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

  Orphanet Journal of Rare Diseases, Volume 10, No. 1, Article 31, Year 2015, Citations 32
• CHARGE syndrome: A recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays /631/208 /692/308 brief-communication

  European Journal of Human Genetics, Volume 26, No. 2, Year 2018, Citations 26