Rezultati - van Haaften, Gijs

Tumorigenicity of the miR-17-92 cluster distilled od van Haaften, Gijs, Agami, Reuven

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Young adult with Cantú syndrome: dealing with a rare genetic skin disorder od Roessler, Helen I, van Haaften, Gijs, van Haelst, Mieke M

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A versatile microsatellite instability reporter system in human cells od Koole, Wouter, Schäfer, Henning S., Agami, Reuven, van Haaften, Gijs, Tijsterman, Marcel

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Gene interactions in the DNA damage-response pathway identified by genome-wide RNA-interference analysis of synthetic lethality od van Haaften, Gijs, Vastenhouw, Nadine L., Nollen, Ellen A. A., Plasterk, Ronald H. A., Tijsterman, Marcel

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E2F mediates enhanced alternative polyadenylation in proliferation od Elkon, Ran, Drost, Jarno, van Haaften, Gijs, Jenal, Mathias, Schrier, Mariette, Oude Vrielink, Joachim AF, Agami, Reuven

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Identification of genes that protect the C. elegans genome against mutations by genome-wide RNAi od Pothof, Joris, van Haaften, Gijs, Thijssen, Karen, Kamath, Ravi S., Fraser, Andrew G., Ahringer, Julie, Plasterk, Ronald H.A., Tijsterman, Marcel

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Genome-wide RNA interference screen identifies previously undescribed regulators of polyglutamine aggregation od Nollen, Ellen A. A., Garcia, Susana M., van Haaften, Gijs, Kim, Soojin, Chavez, Alejandro, Morimoto, Richard I., Plasterk, Ronald H. A.

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Further confirmation of the MED13L haploinsufficiency syndrome od van Haelst, Mieke M, Monroe, Glen R, Duran, Karen, van Binsbergen, Ellen, Breur, Johannes M, Giltay, Jacques C, van Haaften, Gijs

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Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in K(ATP) channel gain-of-function by differential mechanisms od McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., van Haaften, Gijs, Nichols, Colin G.

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A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder od Tessadori, Federico, Rehman, Atteeq U., Giltay, Jacques C., Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R., van Haaften, Gijs

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Three‐dimensional facial morphology in Cantú syndrome od Roessler, Helen I., Shields, Kathleen, Grange, Dorothy K., Knoers, Nine V.A.M., van Haaften, Gijs, Hammond, Peter, van Haelst, Mieke M.

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Glibenclamide and HMR1098 normalize Cantú syndrome‐associated gain‐of‐function currents od Houtman, Marien J. C., Chen, Xingyu, Qile, Muge, Duran, Karen, van Haaften, Gijs, Stary‐Weinzinger, Anna, van der Heyden, Marcel A. G.

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Clinical utility gene card for: Cantú syndrome od Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K

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RAP-1 and the RAL-1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans od Frische, Ester W, Pellis-van Berkel, Wendy, van Haaften, Gijs, Cuppen, Edwin, Plasterk, Ronald H A, Tijsterman, Marcel, Bos, Johannes L, Zwartkruis, Fried J T

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Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene od Cooper, Paige E., Reutter, Heiko, Woelfle, Joachim, Engels, Hartmut, Grange, Dorothy K., van Haaften, Gijs, van Bon, Bregje W., Hoischen, Alexander, Nichols, Colin G.

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Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by K(ATP) channel overactivity od McClenaghan, Conor, Huang, Yan, Yan, Zihan, Harter, Theresa M., Halabi, Carmen M., Chalk, Rod, Kovacs, Attila, van Haaften, Gijs, Remedi, Maria S., Nichols, Colin G.

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Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders od Tessadori, Federico, Roessler, Helen I., Savelberg, Sanne M. C., Chocron, Sonja, Kamel, Sarah M., Duran, Karen J., van Haelst, Mieke M., van Haaften, Gijs, Bakkers, Jeroen

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A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy od Broekema, Marjoleine F., Massink, Maarten P. G., De Ligt, Joep, Stigter, Edwin C. A., Monajemi, Houshang, De Ridder, Jeroen, Burgering, Boudewijn M. T., van Haaften, Gijs W., Kalkhoven, Eric

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Behavioral and cognitive functioning in individuals with Cantú syndrome od Roessler, Helen I., van der Heuvel, Lieke M., Shields, Kathleen, Guilliams, Kristin P., Knoers, Nine V.A.M., van Haaften, Gijs, Grange, Dorothy K., van Haelst, Mieke M.

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New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS) od Willemse, Brigitte W. M., van der Crabben, Saskia N., Kerstjens-Frederikse, Wilhelmina S., Timens, Wim, van Montfrans, Joris M., Lindemans, Caroline A., Boelens, Jaap Jan, Hennus, Marije P., van Haaften, Gijs

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