Search Results - Knegt, Lia C

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  1. 1
    Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing

    Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing by van Kuilenburg, André B.P., Meijer, Judith, Maurer, Dirk, Dobritzsch, Doreen, Meinsma, Rutger, Los, Maartje, Knegt, Lia C., Zoetekouw, Lida, Jansen, Rob L.H., Dezentjé, Vincent, van Huis-Tanja, Lieke H., van Kampen, Roel J.W., Hertz, Jens Michael, Hennekam, Raoul C.M.

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  2. 2
    Genetic Analyses in Small-for-Gestational-Age Newborns

    Genetic Analyses in Small-for-Gestational-Age Newborns by Stalman, Susanne E, Solanky, Nita, Ishida, Miho, Alemán-Charlet, Cristina, Abu-Amero, Sayeda, Alders, Marielle, Alvizi, Lucas, Baird, William, Demetriou, Charalambos, Henneman, Peter, James, Chela, Knegt, Lia C, Leon, Lydia J, Mannens, Marcel M A M, Mul, Adi N, Nibbering, Nicole A, Peskett, Emma, Rezwan, Faisal I, Ris-Stalpers, Carrie, van der Post, Joris A M, Kamp, Gerdine A, Plötz, Frans B, Wit, Jan M, Stanier, Philip, Moore, Gudrun E, Hennekam, Raoul C

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  3. 3
    The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

    The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome? by Barge-Schaapveld, Daniela Q.C.M., Maas, Saskia M., Polstra, Abeltje, Knegt, Lia C., Hennekam, Raoul C.M.

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  4. 4
    Chorionic villi sampling: cytogenetic and clinical findings in 500 pregnancies

    Chorionic villi sampling: cytogenetic and clinical findings in 500 pregnancies by Leschot, N J, Wolf, H, Verjaal, M, van Prooijen-Knegt, L C, de Boer, E G, Kanhai, H H, Christiaens, G C

    Published in BMJ
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  5. 5
    Coronary CT Angiography as a Guide to Timing of Invasive Treatment in Patients With NSTEACS

    Coronary CT Angiography as a Guide to Timing of Invasive Treatment in Patients With NSTEACS by Kühl, Jørgen T., Kelbæk, Henning, Linde, Jesper J., Sigvardsen, Per E., Hansen, Thomas F., de Knegt, Martina C., Heitmann, Merete, Hansen, Peter R., Høfsten, Dan, Bang, Lia E., Hove, Jens D., Kragelund, Charlotte, Abdulla, Jawdat, Holmvang, Lene, Torp-Pedersen, Christian, Gislason, Gunnar, Engstrøm, Thomas, Køber, Lars V., Kofoed, Klaus F.

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  6. 6
    An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality

    An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality by Ferrer, Christina M, Alders, Marielle, Postma, Alex V, Park, Seonmi, Klein, Mark A, Cetinbas, Murat, Pajkrt, Eva, Glas, Astrid, van Koningsbruggen, Silvana, Christoffels, Vincent M, Mannens, Marcel M A M, Knegt, Lia, Etchegaray, Jean-Pierre, Sadreyev, Ruslan I, Denu, John M, Mostoslavsky, Gustavo, van Maarle, Merel C, Mostoslavsky, Raul

    Published in Genes & development
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