Kinning, Esther

Top Publications

Top Publications Authored or Co-Authored by "Kinning, Esther"

• Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

  Science, Volume 319, No. 5864, Year 2008, Citations 382
• A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

  American Journal of Medical Genetics, Part A, Volume 167, No. 3, Year 2015, Citations 70
• Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Volume 160 C, No. 3, Year 2012, Citations 31
• Mutations in a novel gene Dymeclin (FLJ20071) are responsible fo Dyggve-Melchior-Clausen syndrome

  Human Molecular Genetics, Volume 12, No. 3, Year 2003, Citations 12