Treffer 1 - 16 von 16 für Suche 'Dhar, Jyoti B', Suchdauer: 1,27s Treffer weiter einschränken
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    Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain von Erger, Florian, Settas, Nikolaos, London, Edra, Torti, Erin, Nelson, Stanley F., Acosta, Maria T., Adams, David R., Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Bayrak-Toydemir, Pinar, Beck, Anita, Bennett, Jimmy, Bernstein, Jonathan A., Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Boyd, Brenna, Brokamp, Elly, Burke, Elizabeth A., Byrd, William E., Carrasquillo, Olveen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Coggins, Matthew, Cole, F. Sessions, Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Eckstein, David J., Eng, Christine M., Ferreira, Carlos, Glass, Ian, Gochuico, Bernadette, Goldman, Alica M., Goldstein, David B., Hassey, Kelly, Hom, Jason, Huang, Yong, Jarvik, Gail P., Jarvik, Jeffrey, Krasnewich, Donna M., LaMoure, Grace L., Lalani, Seema R., Lanpher, Brendan C., Latham, Lea, Liu, Pengfei, Liu, Xue Zhong, Macnamara, Ellen F., Malicdan, May Christine V., Manolio, Teri A., Maravilla, Kenneth, Marom, Ronit, Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., McGee, Elisabeth, Might, Matthew, Nakano-Okuno, Mariko, Nath, Avi, Nicholas, Sarah K., Novacic, Donna, Orengo, James P., Pallais, J. Carl, Palmer, Christina G.S., Parker, Neil H., Posey, Jennifer E., Quinlan, Aaron, Reuter, Chloe M., Robertson, Amy K., Ruzhnikov, Maura, Samson, Susan L., Saporta, Mario, Schaechter, Judy, Signer, Rebecca H., Smith, Kevin S., Ben Solomon, Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Tabor, Holly K., Tucker, Brianna M., Vanderver, Adeline, Wallace, Stephanie, Wangler, Michael F., Ward, Patricia A., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Zastrow, Diane B., Grange, Dorothy K., Willaert, Rebecca, Theiß, Susanne, Stocco, Amber

    Veröffentlicht in Genetics in medicine

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    Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases von Krier, Joel B., Züchner, Stephan, Huang, Alden, Bastarache, Lisa, Bican, Anna, Liu, Pengfei, Adam, Margaret, Alejandro, Mercedes E., Alvey, Justin, Azamian, Mahshid S., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Bale, Jim, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Boyd, Brenna, Brown, Gabrielle, Burrage, Lindsay C., Butte, Manish J., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Cunningham, Michael, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Eng, Christine M., Falk, Marni, Ferreira, Carlos, Findley, Laurie C., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Godfrey, Rena A., Hanchard, Neil A., Hing, Anne, Huryn, Laryssa, Isasi, Rosario, Kiley, Dana, Korrick, Susan, Krakow, Deborah, Lalani, Seema R., LeBlanc, Kimberly, Liu, Xue Zhong, MacDowall, John, MacRae, Calum A., Mamounas, Laura A., Maravilla, Kenneth, Markello, Thomas C., Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McCauley, Jacob, Merritt, J. Lawrence, Might, Matthew, Moretti, Paolo, Murdock, David R., Nakano-Okuno, Mariko, Nickerson, Deborah, Oglesbee, Devin, Pace, Laura, Pallais, J. Carl, Papp, Jeanette C., Phillips, John A., Power, Bradley, Pusey, Barbara N., Raja, Archana N., Renteria, Genecee, Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sampson, Jacinda B., Schedl, Timothy, Shin, Jimann, Smith, Edward C., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Toro, Camilo, Tucker, Brianna M., Velinder, Matt, Viskochil, Dave, Wambach, Jennifer, Wang, Lee-kai, Ward, Patricia A., Wener, Mark, Westerfield, Monte, Whitlock, Jordan, Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Zein, Wadih

    Veröffentlicht in Genetics in medicine

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    De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects von Calabretta, Sara, Boudrahem-Addour, Nassima, Joset, Pascal, Krier, Joel, Adams, David R., Allard, Patrick, Azamian, Mahshid S., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Bonner, Devon, Boone, Braden E., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Carrasquillo, Olveen, Coakley, Terra R., Cobban, Laurel A., Colley, Heather A., Cooper, Cynthia M., D’Souza, Precilla, Davids, Mariska, Dell’Angelica, Esteban C., Dhar, Shweta U., Dorset, Daniel C., Duncan, Laura, Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., High, Frances, Hom, Jason, Huang, Alden, Isasi, Rosario, Kelley, Emily G., Lalani, Seema R., Lanza, Ian R., Lazar, Jozef, LeBlanc, Kimberly, Lee, Hane, Levitt, Roy, Lincoln, Sharyn A., Loo, Sandra K., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., Morimoto, Marie, Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Pallais, J. Carl, Phillips, John A., Quinlan, Aaron, Raja, Archana N., Renteria, Genecee, Robertson, Amy K., Sacco, Ralph, Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Tamburro, Cecelia P., Tekin, Mustafa, Tifft, Cynthia J., Toro, Camilo, Urv, Tiina K., Velinder, Matt, Walley, Nicole M., Wangler, Michael F., Waters, Katrina M., Wegner, Daniel, Wheeler, Matthew T., Yoon, Amanda J., Yu, Guoyun, Simpson, Brittany N., Trimouille, Aurélien, Delphine, Heron, Keren, Boris, Charron, Frédéric


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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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