检索结果 - Crenshaw, Melissa

A patient with Phelan‐McDermid syndrome and dilation of the great vessels 由 Deibert, Emily, Crenshaw, Melissa, Miller, Michelle S.

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Genotype–phenotype correlation in patients with bicuspid aortic valve and aneurysm 由 Kent, Kathleen C., Crenshaw, Melissa L., Goh, Denise L. M., Dietz, Harry C.

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Hypereosinophilic syndrome and hemimelia in a patient with chromosome 6p22.3 deletion 由 Ladinsky, Hava T., Elizalde, Araceli, Schickler, Robyn, Dees, Paola B., Crenshaw, Melissa L., Sleasman, John W.

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MBCL-46. COMPOUND HETEROZYGOUS MUTATION OF THE PMS2 GENE IN AN INFANT WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY AND MEDULLOBLASTOMA 由 Lukas, Claudia, Crenshaw, Melissa, Gonzalez-Gomez, Ignacio, Potthast, Joseph, Shimony, Nir, Jallo, George, Stapleton, Stacie

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B-cell acute lymphoblastic leukemia with high mutation burden presenting in a child with constitutional mismatch repair deficiency 由 Oshrine, Benjamin, Grana, Nanette, Moore, Colin, Nguyen, Johnny, Crenshaw, Melissa, Edwards, Melissa, Sudhaman, Sumedha, Forster, Victoria J., Tabori, Uri

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“Donating our bodies to science”: A discussion about autopsy and organ donation in Turner syndrome 由 Prakash, Siddharth K., Roman, Adrianna K. San, Crenshaw, Melissa, Flink, Barbara, Earle, Kimberly, Los, Evan, Bonnard, Åsa, Lin, Angela E.

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The Turner syndrome research registry: Creating equipoise between investigators and participants 由 Prakash, Siddharth K., Lugo-Ruiz, Soniely, Rivera-Dávila, Michelle, Rubio, Nunilo, Shah, Avni N., Knickmeyer, Rebecca C., Scurlock, Cindy, Crenshaw, Melissa, Davis, Shanlee M., Lorigan, Gary A., Dorfman, Aaron T., Rubin, Karen, Maslen, Cheryl, Bamba, Vaneeta, Kruszka, Paul, Silberbach, Michael

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... 由 Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 由 Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

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Databases for Congenital Heart Defect Public Health Studies Across the Lifespan 由 Riehle‐Colarusso, Tiffany J., Bergersen, Lisa, Broberg, Craig S., Cassell, Cynthia H., Gray, Darryl T., Grosse, Scott D., Jacobs, Jeffrey P., Jacobs, Marshall L., Kirby, Russell S., Kochilas, Lazaros, Krishnaswamy, Asha, Marelli, Arianne, Pasquali, Sara K., Wood, Thalia, Oster, Matthew E., Abarbanell, Ginnie Lee, Adams, Faith, Allen, Steven W., Allen, Sydney, Ambrose, Anand, Backer, Carl Lewis, Baer, Andrea, Baker‐Smith, Carissa Marie, Barmash, Mona, Basken, Amy, Bates, Cassandra, Batlivala, Sarosh Percy, Beekman, Robert H., Belmont, John William, Benke, Joshua, Berger, Stuart, Bockerstette, JR, Boris, Jeffrey R., Botto, Lorenzo, Boucher, Jackie, Hageman, Dana Brock, Soto, Cheryl Brosig, Burns, Kristin Marie, Cameron, Lenore, Campbell, Robert M., Colan, Steven E., Colegrove, Lynn, Coleman, Christina, Colson, Angie, Correa, Adolfo, Costa, Pamela, Couser, Chris, Crenshaw, Melissa Lynnn, Crume, Tessa, Daskalov, Rachel, Del Monte, Mark D., DeSantis, Lindsay, Doherty, Kaitlin, Dooley, Kenneth, Duke, Charles (Wes), Eghtesady, Pirooz, Elayda, Saiza, Ellison, Alison, Elsner, Tim, Erntz, Cori, Esquivel, Michelle Z., Evans, Bethany, Feit, Lloyd Robert, Feldkamp, Marcia, Foley, William, Foster, Elyse, Franklin, Wayne, Freeley, Bridget, Galioto, Frank M., George, Mary, Gewitz, Michael H., Gist, Katja Michelle, Glenn, Thomas, Glidewell, Melissa (Jill), Gore, Lorraine A., Gray, Johanna, Green, Hannah, Grosse, Scott D., Gurvitz, Michelle Z., Handa, Sonia, Harvey, Melissa, Heath, Emilie, Hile, Danielle, Hokanson, John Smith, Honein, Margaret (Peggy), Hubbell, Marius M., Hudson, Jeff, Huhn, Kelly, Ilardi, Dawn, Jacobs, Dawn C., Jaquiss, Robert Douglas Benjamin, Jenkins, Kathy J., John, Anitha, Johnson, Patrick, Johnson, Shakila, Jones, Emily, Jossif, Antonios P., Kaltman, Jonathan Ross, Kasnic, David, Kemper, Alex R., Kenny, Natalie, Khairy, Paul, King, Valerie, Knapp, Donna, Kobayashi, Daisuke, Kovacs, Adrienne, Kucik, James, Kuehl, Karen S., Kuznetsov, Alexandra, Leezer, Scott, Lemacks, Jodi, Libby, Patty, Lipkin, Paul H., Lloyd‐Puryear, Michele Ann, Lopez, Keila Natilde, Madsen, Nicolas L., Mai, Cara, Mann, Monica, Marino, Bradley, Martin, Gerard Robert, Paul Matherne, G., Mauller, Phillip, May, Susan, McCabe, Edward R. B., McCabe, Nancy, McCardle, Michelle, McCathran, Ty, McCathran, Amy, McConnell, Michael E., McCormick, Kristine Brite, Melsom, Eric, Milionis, William Kelly, Miller, Paula, Miller, Erika, Mitchell, Stephanie, Moore, Cynthia A., Morris, Laura, Murray, Angela, Mussatto, Kathleen, Neish, Steven R., Nelson, Sue, Newburger, Jane W., Nicolarsen, Jeremy, Niggles, Autumn, Noonan, Jacqueline Anne, Ober, Gail, O'Keefe, Lori, Overcash, Marc, Page, Jennifer, Park, Matthew Vaughn, Patel, Mehul D., Patel, Jasmin, Pearson, Gail Denise, Pellegrini, Cindy, Pierce, Corrie, Pinto, Nelangi M., Polen, Kara, Quinones, Jose Alcides, Raimondi, Carol, Richter, Pat, Rintamaki, Michelle, Robles, Elisa, Rosenthal, Geoffrey L., Rush, Grahame, Russell, Laura, Saarinen, Annamarie, Sable, Craig Andrew, Saltz, Joel, Schaefer, Terri, Schubert, Kathryn, Schwartz, Vida, Shapira, Stuart K., Sheehan, Kathleen, Silverman, Brenda, Simeone, Regina, Smith, Juanita, Smith, Kimberly E., Smith, Kristina, Sontag, Marci, Srivastava, Shubhika, Stassen, Corrie, Stiver, Corey, Taubert, Kathryn, Thibadeau, Judy, Thomas, John P., Thomas, Dena, Thorne, Vivian Baldassari, Tiernan, Linda, Timmins, Susan, Tiner, Colby, Torentinos, Natalie, Tringali, Glenn, Tweddell, James S., Vasquez, Lisa M., Verstappen, Amy, Ware, Janice, Watkins, Caron, Webb, Catherine L., Weiss, Ellen, Weiss, Marina, Wernovsky, Gil, Whitehurst, Gretchen, Whitley, Herbert, Witten, Jennifer, Wong, Austin Henry, Wright, Matthew, Wynbrant, Robert, Zheleva, Bistra

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