Tazeen Ashraf

Clinical and genetic aspects of KBG syndrome

Karen Low, Tazeen Ashraf, Natalie Canham et al. · American Journal of Medical Genetics Part A · 2016 · 136 citations · Full text

Medical and legal confusion surrounding gamma-hydroxybutyrate (GHB) and its precursors gamma-butyrolactone (GBL) and 1,4-butanediol (1,4BD)

David M. Wood, Charlotte Warren‐Gash, Tazeen Ashraf et al. · QJM · 2007 · 67 citations · Full text

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition

Tazeen Ashraf, Morag N. Collinson, Joanna Fairhurst et al. · American Journal of Medical Genetics Part A · 2015 · 36 citations

Short Stature, Genetics, Genetic Epidemiology +18

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen et al. · Genetics in Medicine · 2022 · 28 citations · Full text

Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the <i><scp>RECQL</scp>4</i> and <i><scp>USB</scp>1 (C16orf57)</i> gene

Aude‐Annick Suter, Peter Itin, Karl Heinimann et al. · Molecular Genetics & Genomic Medicine · 2016 · 19 citations · Full text