Emma Tham

Summary

Affiliation: Karolinska University Hospital
Country: Sweden

Publications

  1. doi Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
    Emma Tham
    Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden Electronic address
    Am J Hum Genet 96:507-13. 2015
  2. ncbi Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases
    Emma Tham
    Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 92:3389-95. 2007

Detail Information

Publications2

  1. doi Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
    Emma Tham
    Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden Electronic address
    Am J Hum Genet 96:507-13. 2015
    ..The identification of human subjects complements previous work from mice and zebrafish where knockouts of Kat6a/kat6a lead to developmental defects. ..
  2. ncbi Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases
    Emma Tham
    Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 92:3389-95. 2007
    ..Multiple endocrine neoplasia type 1 (MEN1) is a tumor syndrome of the parathyroid, endocrine pancreas, and anterior pituitary caused by mutations in the MEN1 gene on 11q13...