Treffer 1 - 20 von 98 für Suche 'Burke, Julian C', Suchdauer: 2,06s Treffer weiter einschränken
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    Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide von Walpole, Sebastian, Pritchard, Antonia L, Cebulla, Colleen M, Pilarski, Robert, Stautberg, Meredith, Davidorf, Frederick H, de la Fouchardière, Arnaud, Cabaret, Odile, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Garfield, Erin, Njauw, Ching-Ni, Cheung, Mitchell, Turunen, Joni A, Repo, Pauliina, Järvinen, Reetta-Stiina, van Doorn, Remco, Jager, Martine J, Luyten, Gregorius P M, Marinkovic, Marina, Chau, Cindy, Potrony, Miriam, Höiom, Veronica, Helgadottir, Hildur, Pastorino, Lorenza, Bruno, William, Andreotti, Virginia, Dalmasso, Bruna, Ciccarese, Giulia, Queirolo, Paola, Mastracci, Luca, Wadt, Karin, Kiilgaard, Jens Folke, Speicher, Michael R, van Poppelen, Natasha, Kilic, Emine, Al-Jamal, Rana'a T, Dianzani, Irma, Betti, Marta, Bergmann, Carsten, Santagata, Sandro, Dahiya, Sonika, Taibjee, Saleem, Burke, Jo, Poplawski, Nicola, O'Shea, Sally J, Newton-Bishop, Julia, Adlard, Julian, Adams, David J, Lane, Anne-Marie, Kim, Ivana, Klebe, Sonja, Racher, Hilary, Harbour, J William, Nickerson, Michael L, Murali, Rajmohan, Palmer, Jane M, Howlie, Madeleine, Symmons, Judith, Hamilton, Hayley, Warrier, Sunil, Glasson, William, Johansson, Peter, Robles-Espinoza, Carla Daniela, Ossio, Raul, de Klein, Annelies, Puig, Susana, Ghiorzo, Paola, Nielsen, Maartje, Kivelä, Tero T, Tsao, Hensin, Testa, Joseph R, Gerami, Pedram, Stern, Marc-Henri, Paillerets, Brigitte Bressac-de, Abdel-Rahman, Mohamed H, Hayward, Nicholas K


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    Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay von Sullivan, Jennifer A., Shashi, Vandana, Jiang, Yong-hui, Stong, Nicholas, Fiala, Elise, Willing, Marcia, Pfundt, Rolph, Kleefstra, Tjitske, Orellana, Carmen, Monfort, Sandra, Roscioli, Tony, Jones, Wendy D., Sebastian, Jessica, Sonal, Desai, Sakkubai, Naidu, Faivre, Laurence, Krantz, Ian D., Adams, David R., Alejandro, Mercedes E., Azamian, Mahshid S., Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Bican, Anna, Birch, Camille L., Bonner, Devon, Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Chen, Shan, Coakley, Terra R., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Eskin, Ascia, Friedman, Noah D., Glanton, Emily, Godfrey, Rena A., Gould, Sarah E., Gropman, Andrea L., Hom, Jason, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Kohane, Isaac S., Krieg, Elizabeth L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lewis, Richard A., Loo, Sandra K., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCray, Alexa T., Might, Matthew, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Pena, Loren D.M., Phillips, John A., Postlethwait, John H., Reuter, Chloe M., Rosenfeld, Jill A., Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Sinsheimer, Janet S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tran, Alyssa A., Valivullah, Zaheer M., Wahl, Colleen E., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Worthey, Elizabeth A., Yang, Yaping, Zastrow, Diane B., Campeau, Philippe M.


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    Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder von Yoon, Wan Hee, Jangam, Sharayu, Davidson, Jean M., Grove, Megan E., Kohler, Jennefer N., Holmes, Matthew, Zhao, Chunli, Contrepois, Kévin, Heyman, Heino M., Webb-Robertson, Bobbie-Jo M., Alejandro, Mercedes E., Allard, Patrick, Balasubramanyam, Ashok, Barseghyan, Hayk, Bican, Anna, Birch, Camille L., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dorset, Daniel C., Draper, David D., Eckstein, David J., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Hanchard, Neil A., Herzog, Matthew R., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krier, Joel B., Lazar, Jozef, Lee, Hane, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, May, Thomas, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Novacic, Donna, Orange, Jordan S., Palmer, Christina G.S., Potocki, Lorraine, Pusey, Barbara N., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stong, Nicholas, Tifft, Cynthia J., Tran, Alyssa A., Valivullah, Zaheer M., Ward, Patricia A., Yamamoto, Shinya, Snyder, Michael, Merker, Jason D., Fisher, Paul G., Mayr, Johannes A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., Yamamoto, Shinya, Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A.


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    IRF2BPL Is Associated with Neurological Phenotypes von Marcogliese, Paul C., Rosenfeld, Jill A., Koenig, Mary Kay, Chen, Agnes H., Dickson, Patricia I., Vera, Moin U., Salamon, Noriko, Infante, Elena, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Kanca, Oguz, Xia, Fan, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Lark, Robert, Riley, Kacie, Golden-Grant, Katie, Poppe, Bruce, Terryn, Wim, Adams, David R., Allard, Patrick, Bacino, Carlos A., Bick, David P., Bostwick, Bret L., Brush, Matthew, Burrage, Lindsay C., Clark, Gary D., Cooper, Cynthia M., D’Souza, Precilla, Davids, Mariska, Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dorrani, Naghmeh, Dorset, Daniel C., Esteves, Cecilia, Fogel, Brent L., Gahl, William A., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Howerton, Ellen M., Jiang, Yong-hui, Johnston, Jean M., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Lipson, Allen, Loo, Sandra K., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Martínez-Agosto, Julian A., McConkie-Rosell, Allyn, McCormack, Colleen E., Morimoto, Marie, Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Robertson, Amy K., Sampson, Jacinda B., Schoch, Kelly, Shashi, Vandana, Smith, Kevin S., Splinter, Kimberly, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Waters, Katrina M., Westerfield, Monte, Yu, Guoyun, Zheng, Allison, Yamamoto, Shinya, Wangler, Michael F., Lee, Brendan, Nelson, Stanley F., Goldstein, David B., Bellen, Hugo J.


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    The Molecular Taxonomy of Primary Prostate Cancer von Abeshouse, Adam, Akbani, Rehan, Ally, Adrian, Andry, Christopher D., Auman, J. Todd, Beroukhim, Rameen, Boutros, Paul C., Bradley, Robert K., Bristow, Christopher A., Bryce, Alan H., Butterfield, Yaron S.N., Button, Michael, Carroll, Peter R., Carter, Scott L., Carver, Brett S., Chan, June M., Chen, Yu, Cherniack, Andrew D., Cibulskis, Kristian, Ciriello, Giovanni, Costello, Anthony J., Dvinge, Heidi, Felau, Ina, Gardner, Johanna, Gehlenborg, Nils, Graefen, Markus, Guin, Ranabir, Gupta, Manaswi, Hadjipanayis, Angela, Hayes, D. Neil, Heiman, David I., Hoadley, Katherine A., Holbrook, Andrea H., Hoyle, Alan P., Huang, Mei, Ittmann, Michael, Kahles, Andre, Kane, Christopher J., Kerger, Michael, Klein, Robert J., Lai, Phillip H., Laird, Peter W., Lander, Eric S., Latour, Mathieu, Lawrence, Michael S., Lau, Kevin, LeBien, Tucker, Leraas, Kristen M., Lin, Pei, Linehan, W. Marston, Lolla, Laxmi, Longacre, Teri, Lu, Yiling, Mallery, David, Mariamidze, Armaz, Meng, Shaowu, Meyerson, Matthew, Mieczkowski, Piotr A., Mills, Gordon B., Minner, Sarah, Morrison, Carl, Naresh, Rashi, Nelson, Joel, Nelson, Peter S., Newton, Yulia, Noushmehr, Houtan, Parfenov, Michael, Park, Peter J., Piché, Alain, Rathmell, W. Kimryn, Reynolds, Sheila M., Roach, Jeffrey, Robertson, A. Gordon, Sadeghi, Sara, Scarlata, Eleonora, Shen, Ronglai, Shi, Yan, Shih, Juliann, Skelly, Tara, Sofia, Heidi J., Stewart, Chip, Sun, Charlie, Tan, Donghui, Taylor, Barry S., Teebagy, Patrick, Têtu, Bernard, Thiessen, Nina, Tirapelli, Daniela P., Tomlins, Scott A., Trevisan, Felipe Amstalden, True, Lawrence D., Weinhold, Nils, Wilkerson, Matthew D., Wu, Junyuan, Wu, Ye, Xu, Andrew W., Yadav, Shalini S., Yang, Lixing, Yena, Peggy, Zeng, Thomas

    Veröffentlicht in Cell

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    Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly von Wan, Jijun, Adams, David R., Balasubramanyam, Ashok, Bamshad, Michael, Beck, Anita, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Bonner, Devon, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Cassini, Thomas, Chao, Hsiao-Tuan, Chinn, Ivan, Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Dai, Hongzheng, Davis, Joie, Douine, Emilie D., Eckstein, David J., Emrick, Lisa T., Hadley, Don, Halley, Meghan C., Hassey, Kelly, High, Frances, Hing, Anne, Hisama, Fuki M., Hutchison, Sarah, Jean-Marie, Orpa, Kaitryn, Emerald, Kilich, Gonench, Kobren, Shilpa N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Loo, Sandra K., MacRae, Calum A., Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Marth, Gabor, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., Novacic, Donna, Oglesbee, Devin, Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Rives, Lynette, Rodan, Lance H., Rosenthal, Elizabeth, Rossignol, Francis, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Scott, Daryl A., Shelkowitz, Emily, Shin, Jimann, Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sullivan, Kathleen, Sybert, Virginia, Tarakad, Arjun, Tekin, Mustafa, Thorson, Willa, Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Viskochil, Dave, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John, Saillour, Virginie, Sacharow, Stephanie, Kanca, Oguz, Bellen, Hugo J., Palmer, Christina G.S.

    Veröffentlicht in Genetics in medicine

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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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    Measurement of the prompt $D^0$ nuclear modification factor in $p$Pb collisions at $\sqrt{s_\mathrm{NN}} = 8.16$ TeV von Aaij, Roel, Abdelmotteleb, Ahmed Sameh Wagih, Abellan Beteta, Carlos, Abudinén, Fernando Jesus, Ackernley, Thomas, Adeva, Bernardo, Adinolfi, Marco, Afsharnia, Hossein, Agapopoulou, Christina, Aidala, Christine Angela, Aiola, Salvatore, Ajaltouni, Ziad, Akar, Simon, Akiba, Kazuyoshi, Albrecht, Johannes, Alessio, Federico, Alexander, Michael, Alfonso Albero, Alejandro, Aliouche, Zakariya, Alvarez Cartelle, Paula, Amato, Sandra, Amey, Jake Lewis, Amhis, Yasmine, An, Liupan, Anderlini, Lucio, Andersson, Martin, Andreianov, Aleksei, Andreotti, Mirco, Andreou, Dimitra, Ao, Dong, Archilli, Flavio, Artamonov, Alexander, Artuso, Marina, Aslanides, Elie, Atzeni, Michele, Audurier, Benjamin, Bachmann, Sebastian, Bachmayer, Marie, Back, John, Bailly-Reyre, Aurelien, Baladron Rodriguez, Pablo, Balagura, Vladislav, Baldini, Wander, Baptista de Souza Leite, Juan, Barbetti, Matteo, Barlow, Roger, Barsuk, Sergey, Barter, William, Bartolini, Matteo, Baryshnikov, Fedor, Basels, Jan-Marc, Bassi, Giovanni, Batsukh, Baasansuren, Battig, Alexander, Bay, Aurelio, Beck, Anja, Becker, Maik, Bedeschi, Franco, Bediaga, Ignacio, Beiter, Andrew, Belavin, Vladislav, Belin, Samuel, Bellee, Violaine, Belous, Konstantin, Belov, Ilia, Belyaev, Ivan, Bencivenni, Giovanni, Ben-Haim, Eli, Berezhnoy, Alexander, Bernet, Roland, Berninghoff, Daniel, Bernstein, Harris Conan, Bertella, Claudia, Bertolin, Alessandro, Betancourt, Christopher, Betti, Federico, Bezshyiko, Iaroslava, Bhasin, Srishti, Bhom, Jihyun, Bian, Lingzhu, Bieker, Martin Stefan, Biesuz, Nicolo Vladi, Bifani, Simone, Billoir, Pierre, Biolchini, Alice, Birch, Matthew, Bishop, Fionn Caitlin Ros, Bitadze, Alexander, Bizzeti, Andrea, Blago, Michele Piero, Blake, Thomas, Blanc, Frederic, Blusk, Steven, Bobulska, Dana, Boelhauve, Julian Alexander, Boente Garcia, Oscar, Boettcher, Thomas, Boldyrev, Alexey, Bondar, Nikolay, Borghi, Silvia

    Veröffentlicht in Physical review letters

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