Treffer 1 - 20 von 37 für Suche 'Deardorff, William J', Suchdauer: 1,32s Treffer weiter einschränken
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    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies von Brand, Harrison, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Alkuraya, Fowzan S, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Bernstein, Jonathan A, Blumenthal, Ian, Bongers, Ernie M H F, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, Earl, Dawn L, Ferguson, Heather L, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Gliem, Troy, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hill, Rosamund, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Koolen, David A, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Hong, Liao, Eric C, Lose, Edward J, Lucente, Diane, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Masser-Frye, Diane, McClellan, Michael W, Menten, Björn, Middelkamp, Sjors, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Ruliera, Jayla, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Tagoe, Julia, Thakuria, Joseph V, van de Kamp, Jiddeke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Kloosterman, Wigard P, Morton, Cynthia C, Talkowski, Michael E

    Veröffentlicht in Nature genetics

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    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay von Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Liston, Eriskay, Scaglia, Fernando, Rosenfeld, Jill A., Deardorff, Matthew A., Akdemir, Zeynep Coban, Jasien, Joan, Kansagra, Sujay, Freedman, Sharon, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Nelson, Stanley F., Lee, Hane, Vilain, Eric, Kantarci, Sibel, Dorrani, Naghmeh, Mullegama, Sureni, Kang, Sung-Hae, Bacino, Carlos A., Balasubramanyam, Ashok, Craigen, William J., Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Lewis, Richard A., Moretti, Paolo M., Orange, Jordan S., Potocki, Lorraine, Rosenfeld, Jill A., Wangler, Michael F., Yamamoto, Shinya, Muzny, Donna M., Yang, Yaping, Gropman, Andrea L., Goldstein, David B., Schoch, Kelly, Walley, Nicole M., Beggs, Alan H., Krier, Joel B., Loscalzo, Joseph, Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Splinter, Kimberly, Brown, Donna M., Dorset, Dan C., Jones, Angela L., Lazar, Jozef, Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Dayal, Jyoti G., Loomis, Carson R., Mulvihill, John J., Wise, Anastasia L., Haendel, Melissa, Kyle, Jennifer E., Webb-Robertson, Bobbie-Jo M., Kohler, Jennefer N., Herzog, Matthew R., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Frost, Kate, Gartner, Valerie, Gordon, Mary “Gracie” G., Groden, Catherine A., Hardee, Isabel, Johnston, Jean M., Latham, Lea, Lau, C. Christopher, Maduro, Valerie V., Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Valivullah, Zaheer M., Wahl, Colleen E., Weech, Alec A., Westerfield, Monte, Bican, Anna, Phillips, John A., Robertson, Amy K., Xiao, Rui, Posey, Jennifer E., Wangler, Michael F., Shashi, Vandana


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    Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine von Goddard, Katrina A.B., Bernhardt, Barbara A., Biswas, Sawona, Bowling, Kevin M., Caga-anan, Charlisse F., Chinnaiyan, Arul M., Clayton, Ellen W., East, Kelly, Garraway, Levi A., Garrett, Jeremy R., Gray, Stacy W., Hindorff, Lucia A., Lewis, Michelle Huckaby, Hutter, Carolyn M., Janne, Pasi A., Knoppers, Bartha M., Krantz, Ian D., Manolio, Teri A., Nickerson, Deborah A., Ou, Jeffrey, Parsons, Donald W., Petersen, Gloria M., Plon, Sharon E., Rehm, Heidi L., Robinson, Dan, Salama, Joseph S., Scollon, Sarah, Shirts, Brian, Tabor, Holly K., Tarczy-Hornoch, Peter, Appelbaum, Paul S., Arora, Shubhangi, Brothers, Kyle B., Brown, Brian L., Caga-anan, Charlisse F., Calikoglu, Muge G., Christensen, Kurt D., Cirino, Allison L., Conlin, Laura K., Crosslin, David R., Davis, James V., Dorschner, Michael O., Dugan, Noreen P., Exe, Nicole, Fishler, Kristen, Ghrundmeier, Bob, Gordon, Adam S., Gray, David E., Gray, Stacy W., Gutierrez, Amanda M., Hensman, Naomi, Hiatt, Susan M., Himes, Patricia, Horike-Pyne, Martha J., Hull, Sara, Jensen, Brian C., Joffe, Steve, Kaufman, Dave, Kim, Jerry H., Klein, William, Lambert, Michele P., Leo, Michael C., Lewis, Katie, Lonigro, Bob, Machini, Kalotina, Manolio, Teri A., McCullough, Laurence, McMullen, Carmit, Mooney, Sean D., Moore, Elizabeth G., Muzny, Donna, Ng, David, Nickerson, Deborah A., Oliver, Nelly M., Parsons, Will, Plon, Sharon, Powell, Bradford C., Raesz-Martinez, Robin A., Raskind, Wendy H., Rehm, Heidi L., Reiss, Jacob A., Robertson, Peggy D., Robinson, Dan, Salama, Joseph, Scarano, Maria I., Sholl, Lynette M., Silverman, Elian, Simmons, Shirley, Spinner, Nancy B., Stoffel, Elena, Tilley, Christian R., Trinidad, Susan, Ubel, Peter, Vassy, Jason L., Vries, Raymond D., Weck, Karen, Wolf, Susan M., Wynn, Julia, Yu, Joon-Ho, Zikmund-Fisher, Brian J.


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