Search Results - "Snowdowne, Ronelle"

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    Target-Enriched Next-Generation Sequencing Reveals Differences between Primary and Secondary Ovarian Tumors in Formalin-Fixed, Paraffin-Embedded Tissue by Crobach, Stijn, Ruano, Dina, van Eijk, Ronald, Fleuren, Gert Jan, Minderhout, Ivonne, Snowdowne, Ronelle, Tops, Carli, van Wezel, Tom, Morreau, Hans

    Published in The Journal of molecular diagnostics : JMD (01-03-2015)
    “…Differentiating primary endometrioid or mucinous ovarian tumors from secondary ovarian tumors can be challenging. We compared somatic mutation profiles of…”
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  2. 2

    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients by Santen, Gijs W.E., Aten, Emmelien, Vulto-van Silfhout, Anneke T., Pottinger, Caroline, van Bon, Bregje W.M., van Minderhout, Ivonne J.H.M., Snowdowne, Ronelle, van der Lans, Christian A.C., Boogaard, Merel, Linssen, Margot M.L., Vijfhuizen, Linda, van der Wielen, Michiel J.R., Vollebregt, M.J. (Ellen), Breuning, Martijn H., Kriek, Marjolein, van Haeringen, Arie, den Dunnen, Johan T., Hoischen, Alexander, Clayton-Smith, Jill, de Vries, Bert B.A., Hennekam, Raoul C.M., van Belzen, Martine J., Almureikhi, Mariam, Baban, Anwar, Barbosa, Mafalda, Ben-Omran, Tawfeg, Berry, Katherine, Bigoni, Stefania, Boute, Odile, Brueton, Louise, van der Burgt, Ineke, Canham, Natalie, Chandler, Kate E., Chrzanowska, Krystyna, Collins, Amanda L., de Toni, Teresa, Dean, John, den Hollander, Nicolette S., Flore, Leigh Anne, Fryer, Alan, Gardham, Alice, Graham Jr, John M., Harrison, Victoria, Horn, Denise, Jongmans, Marjolijn C., Josifova, Dragana, Kant, Sarina G., Kapoor, Seema, Kingston, Helen, Kini, Usha, Kleefstra, Tjitske, Krajewska-Walasek, Małgorzata, Kramer, Nancy, Maas, Saskia M., Maciel, Patricia, Mancini, Grazia M.S., Maystadt, Isabelle, McKee, Shane, Milunsky, Jeff M., Nampoothiri, Sheela, Newbury-Ecob, Ruth, Nikkel, Sarah M., Parker, Michael J., Pérez-Jurado, Luis A., Robertson, Stephen P., Rooryck, Caroline, Shears, Debbie, Silengo, Margherita, Singh, Ankur, Smigiel, Robert, Soares, Gabriela, Splitt, Miranda, Stewart, Helen, Sweeney, Elizabeth, Tassabehji, May, Tuysuz, Beyhan, van Eerde, Albertien M., Vincent-Delorme, Catherine, Wilson, Louise C., Yesil, Gozde

    Published in Human mutation (01-11-2013)
    “…De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS),…”
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