Now showing items 1-2 of 2

    • Apert's syndrome: Study by whole exome sequencing 

      Munshi, Anjana; Khetarpal, Preeti; Das, Satrupa; Rao, Venkateshwar; Valecha, Monica; Bansal, Manita; Kumar, Roshan (Chongqing yi ke da xue, di 2 lin chuang xue yuan Bing du xing gan yan yan jiu suo, 2018)
      In the present study we attempted a parent-child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System ...
    • Apert’s syndrome: study by whole exome sequencing 

      Munshi, Anjana; Khetarpal, Preeti; Das, Satrupa; Rao, Venkateshwar; Valecha, Monica; Bansal, Vanita; Kumar, Roshan (Elsevier, 2017)
      In the present study we attempted a parent-child trio, whole exome sequencing (WES) approach to study Apert’s syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System ...