Kant, Sarina G.

Top Publications

Top Publications Authored or Co-Authored by "Kant, Sarina G."

• Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

  American Journal of Human Genetics, Volume 75, No. 1, Year 2004, Citations 333
• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

  European Journal of Human Genetics, Volume 20, No. 6, Year 2012, Citations 102
• The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

  Orphanet Journal of Rare Diseases, Volume 8, No. 1, Article 63, Year 2013, Citations 68
• Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

  American Journal of Medical Genetics, Part A, Volume 158 A, No. 11, Year 2012, Citations 47