Author/Creator: van den Ouweland, A M - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator van den Ouweland, A M

1. DNA testing for fragile X syndrome: implications for parents and family. Issue 11 (November 1997)

Authors:: van Rijn, M A; de Vries, B B; Tibben, A; van den Ouweland, A M; Halley, D J; Niermeijer, M F
Journal:: Journal of medical genetics
Issue:: Volume 34:Issue 11(1997)
Page Start:: 907
Record Type:: Journal Article
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2. Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. Issue 10 (October 1998)

Authors:: Verhoef, S; Schrander-Stumpel, C T; Vuzevski, V D; Tempelaars, A; Jansen, L A; Malfeyt, G A; Ceelen, T L; Lindhout, D; Halley, D J; van den Ouweland, A M
Journal:: Journal of medical genetics
Issue:: Volume 35:Issue 10(1998)
Page Start:: 841
Record Type:: Journal Article
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3. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. Issue 6 (June 1996)

Authors:: Keulemans, J L; Reuser, A J; Kroos, M A; Willemsen, R; Hermans, M M; van den Ouweland, A M; de Jong, J G; Wevers, R A; Renier, W O; Schindler, D; Coll, M J; Chabas, A; Sakuraba, H; Suzuki, Y; van Diggelen, O P
Journal:: Journal of medical genetics
Issue:: Volume 33:Issue 6(1996)
Page Start:: 458
Record Type:: Journal Article
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4. Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. Issue 1 (January 1996)

Authors:: Vrtel, R; Verhoef, S; Bouman, K; Maheshwar, M M; Nellist, M; van Essen, A J; Bakker, P L; Hermans, C J; Bink-Boelkens, M T; van Elburg, R M; Hoff, M; Lindhout, D; Sampson, J; Halley, D J; van den Ouweland, A M
Journal:: Journal of medical genetics
Issue:: Volume 33:Issue 1(1996)
Page Start:: 47
Record Type:: Journal Article
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5. Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus. Issue 11 (November 1997)

Authors:: Losekoot, M; Hoogendoorn, E; Olmer, R; Jansen, C C; Oosterwijk, J C; van den Ouweland, A M; Halley, D J; Warren, S T; Willemsen, R; Oostra, B A; Bakker, E
Journal:: Journal of medical genetics
Issue:: Volume 34:Issue 11(1997)
Page Start:: 924
Record Type:: Journal Article
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6. Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. Issue 12 (December 1996)

Authors:: de Vries, B B; Jansen, C C; Duits, A A; Verheij, C; Willemsen, R; van Hemel, J O; van den Ouweland, A M; Niermeijer, M F; Oostra, B A; Halley, D J
Journal:: Journal of medical genetics
Issue:: Volume 33:Issue 12(1996)
Page Start:: 1007
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗