Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Journal Of Neurology, Neurosurgery, And Psychiatry
Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Journal Of Neurology, Neurosurgery, And Psychiatry
Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A