תוצאות חיפוש - Tripathi, Swarnendu
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Computational modeling reveals key molecular properties and dynamic behavior of disruptor of telomeric silencing 1‐like (DOT1L) and partnering complexes involved in leukemogenesis... מאת Stodola, Timothy J., Chi, Young‐In, De Assuncao, Thiago M., Leverence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
יצא לאור 2021Text -
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Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction מאת Chi, Young-In, Stodola, Timothy J., De Assuncao, Thiago M., Levrence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Basel, Donald G., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
יצא לאור 2021Text -
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Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction מאת Chi, Young-In, Stodola, Timothy J., De Assuncao, Thiago M., Levrence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Basel, Donald G., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
יצא לאור 2021Text -
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Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction מאת Samudrala, Sai Suma K., North, Lauren M., Stamm, Karl D., Earing, Michael G., Frommelt, Michele A., Willes, Richard, Tripathi, Swarnendu, Dsouza, Nikita R., Zimmermann, Michael T., Mahnke, Donna K., Liang, Huan Ling, Lund, Michael, Lin, Chien‐Wei, Geddes, Gabrielle C., Mitchell, Michael E., Tomita‐Mitchell, Aoy
יצא לאור 2020Text -
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Phase Separation Mediates NUP98 Fusion Oncoprotein Leukemic Transformation מאת Chandra, Bappaditya, Michmerhuizen, Nicole L., Shirnekhi, Hazheen K., Tripathi, Swarnendu, Pioso, Brittany J., Baggett, David W., Mitrea, Diana M., Iacobucci, Ilaria, White, Michael R., Chen, Jingjing, Park, Cheon-Gil, Wu, Huiyun, Pounds, Stanley, Medyukhina, Anna, Khairy, Khaled, Gao, Qingsong, Qu, Chunxu, Abdelhamed, Sherif, Gorman, Scott D., Bawa, Simranjot, Maslanka, Carolyn, Kinger, Swati, Dogra, Priyanka, Ferrolino, Mylene C., Di Giacomo, Danika, Mecucci, Cristina, Klco, Jeffery M., Mullighan, Charles G., Kriwacki, Richard W.
יצא לאור 2022Text -
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome מאת Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.
יצא לאור 2022Text -
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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome מאת Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Rodriguez, Liset Falcon, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
יצא לאור 2021Text