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Improving the efficacy of exome sequencing at a quaternary ..:
Grunseich, Christopher
;
Sarkar, Nathan
;
Lu, Joyce
...
Journal of Neurology, Neurosurgery & Psychiatry. 92 (2021) 11 - p. 1186-1196 , 2021
Link:
https://doi.org/10.1136/jnnp-2020-325437
RT Journal T1 <Title>Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1136_jnnp-2020-325437&Exemplar=1&LAN=DE A1 Grunseich, Christopher A1 Sarkar, Nathan A1 Lu, Joyce A1 Owen, Mallory A1 Schindler, Alice A1 Calabresi, Peter A A1 Sumner, Charlotte J A1 Roda, Ricardo H A1 Chaudhry, Vinay A1 Lloyd, Thomas E A1 Crawford, Thomas O A1 Subramony, S H A1 Oh, Shin J A1 Richardson, Perry A1 Tanji, Kurenai A1 Kwan, Justin Y A1 Fischbeck, Kenneth H A1 Mankodi, Ami PB BMJ YR 2021 SN 0022-3050 SN 1468-330X JF Journal of Neurology, Neurosurgery & Psychiatry VO 92 IS 11 SP 1186 OP 1196 LK http://dx.doi.org/https://doi.org/10.1136/jnnp-2020-325437 DO https://doi.org/10.1136/jnnp-2020-325437 SF ELIB - SuUB Bremen
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