Malfait, Fransiska

Top Publications

Top Publications Authored or Co-Authored by "Malfait, Fransiska"

• Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

  Human Mutation, Volume 34, No. 1, Year 2013, Citations 70
• Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

  Journal of Bone and Mineral Research, Volume 26, No. 3, Year 2011, Citations 17
• Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

  Orphanet Journal of Rare Diseases, Volume 7, No. 1, Article 61, Year 2012, Citations 12
• Recessive osteogenesis imperfecta caused by LEPRE1 mutations: Clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

  Journal of Medical Genetics, Volume 46, No. 4, Year 2009, Citations 10