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2015, Fourth edition., Oxford monographs on medical genetics, ISBN 9780199681488, Volume no. 67., ix, 308 pages
Book
Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 2, pp. 153 - 161
Journal Article
Muscle & Nerve, ISSN 0148-639X, 09/2013, Volume 48, Issue 3, pp. 357 - 368
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Pediatrics, ISSN 0031-4005, 10/2018, Volume 142, Issue Suppl 2, pp. S1 - S4
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