检索结果 - Gijs van Haaften
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Drug Repurposing for Rare Diseases 由 Helen I. Roessler, Nine Knoers, Mieke M. van Haelst, Gijs van Haaften
出版 2021Revisão -
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LKB1/KRAS mutant lung cancers constitute a genetic subset of NSCLC with increased sensitivity to MAPK and mTOR signalling inhibition 由 Claire Mahoney, Bhudipa Choudhury, Helen Davies, Sarah Edkins, Chris Greenman, Gijs van Haaften, Tatiana Mironenko, Thomas Santarius, Claire Stevens, Michael R. Stratton, P. Andrew Futreal
出版 2009Artigo -
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Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia 由 Maarten P.G. Massink, Marijn Créton, Francesca Spanevello, Willem Fennis, Marco S. Cune, Sanne M. C. Savelberg, Isaäc J. Nijman, Madelon M. Maurice, Marie‐José H. van den Boogaard, Gijs van Haaften
出版 2015Artigo -
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The Poly(A)-Binding Protein Nuclear 1 Suppresses Alternative Cleavage and Polyadenylation Sites 由 Mathias Jenal, Ran Elkon, Fabricio Loayza‐Puch, Gijs van Haaften, Uwe Kühn, Fiona M. Menzies, Joachim A.F. Oude Vrielink, Arnold J. Bos, Jarno Drost, Koos Rooijers, David C. Rubinsztein, Reuven Agami
出版 2012Artigo -
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Joubert syndrome: genotyping a Northern European patient cohort 由 Hester Y. Kroes, Glen R. Monroe, Bert van der Zwaag, Karen Duran, Carolien G. F. de Kovel, Mark J. van Roosmalen, Magdaléna Harakaľová, Isaäc J. Nijman, Wigard P. Kloosterman, Rachel H. Giles, Nine Knoers, Gijs van Haaften
出版 2015Artigo -
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Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats 由 Joram D. Mul, Denovan P. Begg, Suzanne Alsters, Gijs van Haaften, Karen Duran, David A. D’Alessio, Carel W. le Roux, Stephen C. Woods, Darleen A. Sandoval, Alexandra I. F. Blakemore, Edwin Cuppen, Mieke M. van Haelst, Randy J. Seeley
出版 2012Artigo -
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Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation 由 Louise Gregory, Carolina Baeta Neves Duarte Ferreira, Sara K. Young, Hywel Williams, Magdaléna Harakaľová, Gijs van Haaften, Sofia Rahman, Carles Gaston‐Massuet, Daniel Kelberman, GOSgene, Waseem Qasim, Sally A. Camper, Thomas Dever, Pratik Shah, Iain C.A.F. Robinson, Mehul Dattani
出版 2019Artigo -
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Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry 由 Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen S. Shields, Marı́a S. Remedi, Nine Knoers, Jin‐Moo Lee, Edwin P. Kirk, Ingrid Scurr, Sarah Smithson, Gautam K. Singh, Mieke M. van Haelst, Colin G. Nichols, Gijs van Haaften
出版 2019Artigo -
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Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing 由 Christina Stangl, Sam de Blank, Ivo Renkens, Liset Westera, Tamara Verbeek, Jose Espejo Valle-Inclán, Rocío Chamorro González, Anton G. Henssen, Markus J. van Roosmalen, Ronald W. Stam, Emile E. Voest, Wigard P. Kloosterman, Gijs van Haaften, Glen R. Monroe
出版 2020Artigo
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