학술논문

Improving the efficacy of exome sequencing at a quaternary care referral centre: Novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Document Type

Article

Author

Grunseich, C.; Sarkar, N.; Lu, J.; Owen, M.; Schindler, A.; Kwan, J.Y.; Fischbeck, K.H.; Mankodi, A.; Calabresi, P.A.; Sumner, C.J.; Lloyd, T.E.; Crawford, T.O.; Roda, R.H.; Chaudhry, V.; Subramony, S.H.; Oh, S.J.; Richardson, P.; Tanji, K.

Source

In: Journal of Neurology, Neurosurgery and Psychiatry. (Journal of Neurology, Neurosurgery and Psychiatry, 1 November 2021, 92(11):1186-1196)

Subject

Language

English

ISSN

1468330X
00223050

Online Access

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