Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofo... von Hol, Frans A, van der Put, Nathalie MJ, Geurds, Monique PA, Heil, Sandra G, Trijbels, Frans JM, Hamel, Ben CJ, Mariman, Edwin CM, Blom, Henk J

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Absence of linkage between familial neural tube defects and PAX3 gene von Chatkupt, S, Hol, F A, Shugart, Y Y, Geurds, M P, Stenroos, E S, Koenigsberger, M R, Hamel, B C, Johnson, W G, Mariman, E C

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PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida von Hol, F A, Geurds, M P, Chatkupt, S, Shugart, Y Y, Balling, R, Schrander-Stumpel, C T, Johnson, W G, Hamel, B C, Mariman, E C

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A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome von Hol, F A, Hamel, B C, Geurds, M P, Mullaart, R A, Barr, F G, Macina, R A, Mariman, E C

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Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family von HOL, F. A, HAMEL, B. C. J, GEURDS, M. P. A, HANSMANN, I, NABBEN, F. A. E, DANIËLS, O, MARIMAN, E. C. M

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Improving the polymorphism content of the 3′ UTR of the human IGF2R gene von Hol, F.A., Geurds, M.P.A., Hamel, B.C.J., Mariman, E.C.M.

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Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family von HOL, F. A, GEURDS, M. P. A, JENSSON, O, HAMEL, B. C. J, MOORE, G. E, NEWTON, R, MARIMAN, E. C. M

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Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome von Silahtaroglu, A, Hol, F A, Jensen, P K, Erdel, M, Duba, H C, Geurds, M P, Knoers, N V, Mariman, E C, Tümer, Z, Utermann, G, Wirth, J, Bugge, M, Tommerup, N

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Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X) von Hol, F A, Geurds, M P, Cremers, C W, Hamel, B C, Mariman, E C

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Production of native creatine kinase B in insect cells using a baculovirus expression vector von de Kok, Y J, Geurds, M P, Sistermans, E A, Usmany, M, Vlak, J M, Wieringa, B

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