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Three new families with arterial tortuosity syndrome.
Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems PJ. Wessels MW, et al. Among authors: stroink h. Am J Med Genet A. 2004 Dec 1;131(2):134-43. doi: 10.1002/ajmg.a.30272. Am J Med Genet A. 2004. PMID: 15529317
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: stroink h. Neuropediatrics. 2001 Feb;32(1):38-40. doi: 10.1055/s-2001-12213. Neuropediatrics. 2001. PMID: 11315200
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.
Kleijer WJ, van Diggelen OP, Keulemans JL, Losekoot M, Garritsen VH, Stroink H, Majoor-Krakauer D, Franken PF, Eurlings MC, Taschner PE, Los FJ, Galjaard RJ. Kleijer WJ, et al. Among authors: stroink h. Prenat Diagn. 2001 Feb;21(2):99-101. doi: 10.1002/1097-0223(200102)21:2<99::aid-pd988>3.0.co;2-f. Prenat Diagn. 2001. PMID: 11241534
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.
Wang Q, Verhoef S, Tempelaars AM, Bakker PL, Vrtel R, Hesseling-Janssen AL, Nellist M, Oranje AP, Stroink H, Lindhout D, Halley DJ, van den Ouweland AM. Wang Q, et al. Among authors: stroink h. Hum Mutat. 1998;11(4):331-2. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215407
Effect of vaccinations on seizure risk and disease course in Dravet syndrome.
Verbeek NE, van der Maas NA, Sonsma AC, Ippel E, Vermeer-de Bondt PE, Hagebeuk E, Jansen FE, Geesink HH, Braun KP, de Louw A, Augustijn PB, Neuteboom RF, Schieving JH, Stroink H, Vermeulen RJ, Nicolai J, Brouwer OF, van Kempen M, de Kovel CG, Kemmeren JM, Koeleman BP, Knoers NV, Lindhout D, Gunning WB, Brilstra EH. Verbeek NE, et al. Among authors: stroink h. Neurology. 2015 Aug 18;85(7):596-603. doi: 10.1212/WNL.0000000000001855. Epub 2015 Jul 22. Neurology. 2015. PMID: 26203087
87 results