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Page 1
Pitfalls in the diagnosis of multiple sulfatase deficiency.
Mancini GM, van Diggelen OP, Huijmans JG, Stroink H, de Coo RF. Mancini GM, et al. Among authors: de coo rf. Neuropediatrics. 2001 Feb;32(1):38-40. doi: 10.1055/s-2001-12213. Neuropediatrics. 2001. PMID: 11315200
Interrater agreement of the diagnosis and classification of a first seizure in childhood. The Dutch Study of Epilepsy in Childhood.
Stroink H, van Donselaar CA, Geerts AT, Peters AC, Brouwer OF, van Nieuwenhuizen O, de Coo RF, Geesink H, Arts WF; Dutch Study of Epilepsy in Childhood. Stroink H, et al. Among authors: de coo rf. J Neurol Neurosurg Psychiatry. 2004 Feb;75(2):241-5. doi: 10.1136/jnnp.2003.015826. J Neurol Neurosurg Psychiatry. 2004. PMID: 14742597 Free PMC article.
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: de coo rf. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.
Re: polymicrogyria versus pachygyria in 22q11 microdeletion.
de Wit MC, Lequin MH, de Coo RF, Mancini GM. de Wit MC, et al. Among authors: de coo rf. Am J Med Genet A. 2005 Aug 1;136A(4):419; author reply 420-1. doi: 10.1002/ajmg.a.30741. Am J Med Genet A. 2005. PMID: 16001437 No abstract available.
Refinement of the chromosome 16 locus for benign familial infantile convulsions.
Callenbach PM, van den Boogerd EH, de Coo RF, ten Houten R, Oosterwijk JC, Hageman G, Frants RR, Brouwer OF, van den Maagdenberg AM. Callenbach PM, et al. Among authors: de coo rf. Clin Genet. 2005 Jun;67(6):517-25. doi: 10.1111/j.1399-0004.2005.00445.x. Clin Genet. 2005. PMID: 15857419
Benign familial infantile convulsions: a clinical study of seven Dutch families.
Callenbach PM, de Coo RF, Vein AA, Arts WF, Oosterwijk J, Hageman G, ten Houten R, Terwindt GM, Lindhout D, Frants RR, Brouwer OF. Callenbach PM, et al. Among authors: de coo rf. Eur J Paediatr Neurol. 2002;6(5):269-83. doi: 10.1053/ejpn.2002.0609. Eur J Paediatr Neurol. 2002. PMID: 12374579 Free article.
Phenotypic consequences of a novel SCO2 gene mutation.
Verdijk RM, de Krijger R, Schoonderwoerd K, Tiranti V, Smeets H, Govaerts LC, de Coo R. Verdijk RM, et al. Am J Med Genet A. 2008 Nov 1;146A(21):2822-7. doi: 10.1002/ajmg.a.32523. Am J Med Genet A. 2008. PMID: 18924171
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