Three novel KCNA1 mutations in episodic ataxia type I families von Scheffer, H, Brunt, E R, Mol, G J, van der Vlies, P, Stulp, R P, Verlind, E, Mantel, G, Averyanov, Y N, Hofstra, R M, Buys, C H

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Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? von Hofstra, R M W, Elfferich, P, Osinga, J, Verlind, E, Fransen, E, López Pisón, J, de Die-Smulders, C E M, Stolte-Dijkstra, I, Buys, C H C M

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Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense von SCHEFFER, H, VAN DER VLIES, P, BURTON, M, VERLIND, E, MOLL, A C, IMHOF, S M, BUYS, C H C M

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Prognostic significance of K- ras and TP53 mutations in the role of adjuvant chemotherapy on survival in patients with dukes C colon cancer von Bleeker, W A, Hayes, V M, Karrenbeld, A, Hofstra, R M. W, Verlind, E, Hermans, J, Poppema, S, Buys, C H. C. M, Plukker, J.Th M

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A role for MLH3 in hereditary nonpolyposis colorectal cancer von Hofstra, Robert M.W, Wu, Ying, Berends, Maran J.W, Sijmons, Rolf H, Mensink, Rob G.J, Verlind, Edwin, Kooi, Krista A, van der Sluis, Tineke, Kempinga, Claudia, van der Zee, Ate G.J, Hollema, Harry, Buys, Charles H.C.M, Kleibeuker, Jan H

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Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes von Rake, Jan Peter, ten Berge, Annelies M., Visser, Gepke, Verlind, Edwin, Niezen-Koning, Klary E., Buys, Charles H.C.M., Smit, G. Peter A., Scheffer, Hans

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Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms von Wu, Ying, Berends, Maran J.W., Post, Jan G., Mensink, Rob G.J., Verlind, Edwin, Van Der Sluis, Tineke, Kempinga, Claudia, Sijmons, Rolf H., Van Der Zee, Ate G.J., Hollema, Harry, Kleibeuker, Jan H., Buys, Charles H.C.M., Hofstra, Robert M.W.

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Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis von Hut, Petra H.L., Vlies, Pieter v.d., Verlind, Edwin, Buys, Charles H.C.M., Scheffer, Hans, Jonkman, Marcel F., Shimizu, Hiroshi

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Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online von Rake, J P, ten Berge, A M, Verlind, E, Visser, G, Niezen-Koning, K E, Buys, C H, Smit, G P, Scheffer, H

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A yeast artificial chromosome contig that spans the RB1-D13S31 interval on human chromosome 13 and encompasses the frequently deleted region in B-cell chronic lymphocytic leukemia von HAWTHORN, L, ROBERTS, T, VERLIND, E, KOOY, R. F, COWELL, J. K

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An integrated map of human chromosome 13 allowing regional localization of genetic markers von Kooy, R F, Wijngaard, A, Verlind, E, Scheffer, H, Buys, C H

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A deletion hybrid breakpoint map of the chromosomal region 13q14-q21 orders 19 genetic markers in 10 intervals von Kooy, R F, Verlind, E, Houwen, R H, Shapiro, D N, Hawthorn, L A, Cowell, J K, Scheffer, H, Buys, C H

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Efficient partial enumeration for timing analysis of asynchronous systems von Verlind, E., deJong, G., Lin, B.

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The EUROGEM map of human chromosome 13 von Kooy, R F, Wijngaard, A, Verlind, E, Vergnaud, G, Scheffer, H, Buys, C H

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A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND von KOOY, R. F, VERLIND, E, WIJNGAARD, A, SHAPIRO, D. N, SCHEFFER, H, BUYS, C. H. C. M

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Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart von RAKE, J. P, TEN BERGE, A. M, VISSER, G, VERLIND, E, NIEZEN-KONING, K. E, BUYS, C. H. C. M, SMIT, G. P. A, SCHEFFER, H

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X-linked hydrocephalus: a novel missense mutation in the L1CAM gene von Sztriha, L.ászló, Vos, Yvonne J, Verlind, Edwin, Johansen, Johan, Berg, Bertel

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IDENTIFICATION OF CROSSOVERS IN WILSON DISEASE FAMILIES AS REFERENCE POINTS FOR A GENETIC LOCALIZATION OF THE GENE von SCHEFFER, H, HOUWEN, RHJ, TEMEERMAN, GJ, LOESSNER, J, BACHMANN, B, KUNERT, E, VERLIND, E, BUYS, CHCM

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High Frequency of TP53 Mutations in Juvenile Pilocytic Astrocytomas Indicates Role of TP53 in the Development of These Tumors von Hayes, Vanessa M., Dirven, Clemens M.F., Dam, Anke, Verlind, Edwin, Molenaar, Willemina M., Mooij, Jan Jakob A., Hofstra, Robert M.W., Buys, Charles H.C.M.

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Novel Missense Mutation in the L1 Gene in a Child With Corpus Callosum Agenesis, Retardation, Adducted Thumbs, Spastic Paraparesis, and Hydrocephalus von Sztriha, László, Frossard, Philippe, Hofstra, Robert M.W., Verlind, Edwin, Nork, Michael

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