Karaduman, Ayşen A.

Top Publications

Top Publications Authored or Co-Authored by "Karaduman, Ayşen A."

• Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

  American Journal of Human Genetics, Volume 69, No. 5, Year 2001, Citations 454
• Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

  American Journal of Human Genetics, Volume 66, No. 3, Year 2000, Citations 79
• Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13

  Journal of Investigative Dermatology, Volume 127, No. 4, Year 2007, Citations 44
• Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

  Human Molecular Genetics, Volume 13, No. 20, Year 2004, Citations 9