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Browsing by Author "Boer, L. de"
Now showing items 1-11 of 11
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Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior ; Abou Jamra, Rami; Koertel, Nadine; Soyris, Clara; Polla, D.L.; Safra, Modi; ; ; ; ; et al.2018, Article / Letter to editor (American Journal of Human Genetics, vol. 103, iss. 6, (2018), pp. 1045-1052)
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Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity Mendes, M.I.; Smith, D.E.; Pop, A.; Lennertz, P.; Fernandez Ojeda, M.R.; Kanhai, W.A.; Dooren, S.J. van; Anikster, Y.; Baric, I.; Boelen, C.; et al.2017, Article / Letter to editor (Human Mutation, vol. 38, iss. 5, (2017), pp. 524-531)
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International Paediatric Mitochondrial Disease Scale ; ; Dirks, I.; ; ; ; Smuts, I.; Fung, C.W.; Wong, V.C.; Coo, I.R. de; et al.2016, Article / Letter to editor (Journal of Inherited Metabolic Disease, vol. 39, iss. 5, (2016), pp. 705-712)
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High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders Franik, S.; Huidekoper, H.H.; Visser, G.; Vries, M.B. de; ; Hermans-Peters, M.; ; ; Vlieger, A.M.; ; et al.2015, Article / Letter to editor (Journal of Inherited Metabolic Disease, vol. 38, iss. 3, (2015), pp. 477-482)
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Genotype-phenotype correlation in patients suspected of having sotos syndrome. ; Kant, S.; Karperien, M.; Beers, L. van; Tjon, J.; Vink, G.R.; Tol, D. van; Dauwerse, H.G.; Cessie, S. le; Beemer, F.A.; et al.2004, Article / Letter to editor (Hormone Research, vol. 62, iss. 4, (2004), pp. 197-207)
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Now showing items 1-11 of 11
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