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An aetiological study of 25 mentally retarded adults with autism.
van Karnebeek CD, van Gelderen I, Nijhof GJ, Abeling NG, Vreken P, Redeker EJ, van Eeghen AM, Hoovers JM, Hennekam RC. van Karnebeek CD, et al. Among authors: van gelderen i, van eeghen am. J Med Genet. 2002 Mar;39(3):205-13. doi: 10.1136/jmg.39.3.205. J Med Genet. 2002. PMID: 11897827 Free PMC article. No abstract available.
Phenotypic abnormalities: terminology and classification.
Merks JH, van Karnebeek CD, Caron HN, Hennekam RC. Merks JH, et al. Among authors: van karnebeek cd. Am J Med Genet A. 2003 Dec 15;123A(3):211-30. doi: 10.1002/ajmg.a.20249. Am J Med Genet A. 2003. PMID: 14608641
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD; Care4Rare Canada Consortium; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Ren D, Yoon G. Stray-Pedersen A, et al. Among authors: van karnebeek cd. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. Am J Hum Genet. 2016. PMID: 26708751 Free PMC article.
The role of the clinician in the multi-omics era: are you ready?
van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM. van Karnebeek CDM, et al. J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23. J Inherit Metab Dis. 2018. PMID: 29362952 Free PMC article.
214 results