Treffer 1 - 20 von 27 für Suche 'Maas, Katherine', Suchdauer: 1,25s Treffer weiter einschränken
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    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients von 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

    Veröffentlicht in Human mutation

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    Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms von Cassini, Thomas A., Rives, Lynette C., Newman, John H., Koziura, Mary E., Hamid, Rizwan, Adams, Christopher, Adams, David, Alejandro, Mercedes, Allard, Patrick, Ashley, Euan, Bacino, Carlos, Balasubramanyam, Ashok, Barseghyan, Hayk, Bellen, Hugo, Boone, Braden, Bostwick, Bret, Briere, Lauren, Burke, Elizabeth, Burrage, Lindsay, Chao, Katherine, Clark, Gary, Dhar, Shweta, Donnell‐Fink, Laurel, Eckstein, David, Frisby, Trevor, Gartner, Valerie, Godfrey, Rena, Goheen, Mitchell, Golas, Gretchen, Goldstein, David, Gordon, Mary, Gould, Sarah, Gourdine, Jean‐Philippe, Hanchard, Neil, Handley, Lori, Herzog, Matthew, Holm, Ingrid, Howerton, Ellen, Jacob, Howard, Jain, Mahim, Jiang, Yong‐hui, Johnston, Jean, Jones, Angela, Koehler, Alanna, Kohler, Jennefer, Krier, Joel, Lalani, Seema, Latour, Yvonne, Lee, Brendan, Lee, Hane, Lee, Paul, Levy, Shawn, Lewis, Richard, Lincoln, Sharyn, Loscalzo, Joseph, Maas, Richard, MacRae, Calum, Malicdan, May Christine, Mamounas, Laura, McCarty, Alexandra, McCray, Alexa, Might, Matthew, Mulvihill, John, Murphy, Jennifer, Muzny, Donna, Nehrebecky, Michele, Nelson, Stan, Novacic, Donna, Carl Pallais, J, Posey, Jennifer, Potocki, Lorraine, Ramoni, Rachel, Rodan, Lance, Rosenfeld, Jill, Samson, Susan, Schaffer, Katherine, Sharma, Prashant, Shashi, Vandana, Silverman, Edwin, Soldatos, Ariane, Spillmann, Rebecca, Splinter, Kimberly, Stoler, Joan, Stong, Nicholas, Strong, Kimberly, Sullivan, Jennifer, Tifft, Cynthia, Vilain, Eric, Vogel, Tiphanie, Waggott, Daryl, Wahl, Colleen, Waters, Katrina, Webb‐Robertson, Bobbie‐Jo, Westerfield, Monte, Wheeler, Matthew, Wise, Anastasia, Wolfe, Lynne, Worthey, Elizabeth, Yamamoto, Shinya, Yang, Yaping


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