Zobrazeno 1 - 10
of 1 159
pro vyhledávání: '"Nykamp, A."'
Autor:
Soni, S., Berger, B. K., Davis, D., Renzo, F. Di., Effler, A., Ferreira, T. A., Glanzer, J., Goetz, E., González, G., Helmling-Cornell, A., Hughey, B., Huxford, R., Mannix, B., Mo, G., Nandi, D., Neunzert, A., Nichols, S., Pham, K., Renzini, A. I., Schofield, R. M. S., Stuver, A, Trevor, M., Álvarez-López, S., Beda, R., Berry, C. P. L., Bhuiyan, S., Bruntz, R., Christensen, N., Blagg, L., Chan, M., Charlton, P., Connolly, G., Dhatri, R., Ding, J., Garg, V., Holley-Bockelmann, K., Hourihane, S., Jani, K., Janssens, K., Jarov, S., Knee, A. M., Lattal, A., Lecoeuche, Y., Littenberg, T., Liyanage, A., Lott, B., Macas, R., Malakar, D., McGowan, K., McIver, J., Millhouse, M., Nuttall, L., Nykamp, D., Ota, I., Rawcliffe, C., Scully, B., Tasson, J., Tejera, A., Thiele, S., Udall, R., Winborn, C., Yarbrough, Z., Zhang, Z., Abbott, R., Abouelfettouh, I., Adhikari, R. X., Ananyeva, A., Appert, S., Arai, K., Aritomi, N., Aston, S. M., Ball, M., Ballmer, S. W., Barker, D., Barsotti, L., Betzwieser, J., Billingsley, G., Biscans, S., Bode, N., Bonilla, E., Bossilkov, V., Branch, A., Brooks, A. F., Brown, D. D., Bryant, J., Cahillane, C., Cao, H., Capote, E., Clara, F., Collins, J., Compton, C. M., Cottingham, R., Coyne, D. C., Crouch, R., Csizmazia, J., Cullen, T. J., Dartez, L. P., Demos, N., Dohmen, E., Driggers, J. C., Dwyer, S. E., Ejlli, A., Etzel, T., Evans, M., Feicht, J., Frey, R., Frischhertz, W., Fritschel, P., Frolov, V. V., Fulda, P., Fyffe, M., Ganapathy, D., Gateley, B., Giaime, J. A., Giardina, K. D., Goetz, R., Goodwin-Jones, A. W., Gras, S., Gray, C., Griffith, D., Grote, H., Guidry, T., Hall, E. D., Hanks, J., Hanson, J., Heintze, M. C., Holland, N. A., Hoyland, D., Huang, H. Y., Inoue, Y., James, A. L., Jennings, A., Jia, W., Karat, S., Karki, S., Kasprzack, M., Kawabe, K., Kijbunchoo, N., King, P. J., Kissel, J. S., Komori, K., Kontos, A., Kumar, Rahul, Kuns, K., Landry, M., Lantz, B., Laxen, M., Lee, K., Lesovsky, M., Llamas, F., Lormand, M., Loughlin, H. A., MacInnis, M., Makarem, C. N., Mansell, G. L., Martin, R. M., Mason, K., Matichard, F., Mavalvala, N., Maxwell, N., McCarrol, G., McCarthy, R., McClelland, D. E., McCormick, S., McCuller, L., McRae, T., Mera, F., Merilh, E. L., Meylahn, F., Mittleman, R., Moraru, D., Moreno, G., Mullavey, A., Nakano, M., Nelson, T. J. N., Notte, J., Oberling, J., O'Hanlon, T., Osthelder, C., Ottaway, D. J., Overmier, H., Parker, W., Pele, A., Pham, H., Pirello, M., Quetschke, V., Ramirez, K. E., Reyes, J., Richardson, J. W., Robinson, M., Rollins, J. G., Romel, C. L., Romie, J. H., Ross, M. P., Ryan, K., Sadecki, T., Sanchez, A., Sanchez, E. J., Sanchez, L. E., Savage, R. L., Schaetzl, D., Schiworski, M. G., Schnabel, R., Schwartz, E., Sellers, D., Shaffer, T., Short, R. W., Sigg, D., Slagmolen, B. J. J., Soike, C., Srivastava, V., Sun, L., Tanner, D. B., Thomas, M., Thomas, P., Thorne, K. A., Torrie, C. I., Traylor, G., Ubhi, A. S., Vajente, G., Vanosky, J., Vecchio, A., Veitch, P. J., Vibhute, A. M., von Reis, E. R. G., Warner, J., Weaver, B., Weiss, R., Whittle, C., Willke, B., Wipf, C. C., Xu, V. A., Yamamoto, H., Zhang, L., Zucker, M. E.
Progress in gravitational-wave astronomy depends upon having sensitive detectors with good data quality. Since the end of the LIGO-Virgo-KAGRA third Observing run in March 2020, detector-characterization efforts have lead to increased sensitivity of
Externí odkaz:
http://arxiv.org/abs/2409.02831
Autor:
Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)
Abstract Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wi
Externí odkaz:
https://doaj.org/article/29fbe7d26d88463789f004c8908aa4a7
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 38, Iss 2, Pp 1127-1134 (2024)
Abstract Background Clients want to know the ultimate cause of death in their pet after cancer treatment. The cause of euthanasia and investigation of urinary obstruction in treated dogs with urothelial carcinoma (UC) has not been specifically report
Externí odkaz:
https://doaj.org/article/ac8d93702f134d1ebe7cc29c3ecaa97f
Publikováno v:
MethodsX, Vol 13, Iss , Pp 102934- (2024)
The total organic carbon (TOC) concentration of particulate samples is a key parameter to characterize soils and sediments. To demonstrate the applicability and reliability of a modified sample preparation method for the direct measurement of TOC con
Externí odkaz:
https://doaj.org/article/fd6b750fc6b5446f8b6d3b46c225ea8a
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is a rare, combined immunodeficiency disease predominantly caused by gain-of-function variants in the CXCR4 gene that typically results in truncation of the carboxyl terminus of
Externí odkaz:
https://doaj.org/article/33a4399d5701453fb24be25e56262870
Autor:
Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Carter, Jennefer, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Delot, Emmanuele, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garcia, Brandon, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Page, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Sousa, Rodrigo Guarischi, Gudmundsson, Sanna, Gulati, Ashima, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lee, Arthur, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James (Jim), Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Mastrorosa, Francesco Kumara, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Mendez, Hector Rodrigo, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Nguyen, Thuy-mi P., Nguyen, Jonathan, Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria`Sara, Ponce, Sarah, Porter, Elizabeth, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Evette, Scott, Stuart, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Kevin, Smith, Josh, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael (Mike), Tise, Christina, Tong, Catherine (Cat), Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Wei, Chia-Lin, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Chong, Jessica X., Berger, Seth I., Smith, Erica, Calame, Daniel G., Hawley, Megan H., Rivera-Munoz, E. Andres, Bamshad, Michael J., Rehm, Heidi L.
Publikováno v:
In Genetics in Medicine October 2024 26(10)
Autor:
Inderberg, Tor Håkon Jackson, Nykamp, Hilde Andrea, Olkkonen, Ville, Rosenberg, Eva, Taranger, Karianne Krohn
Publikováno v:
In Energy Research & Social Science June 2024 112
Autor:
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Summary: Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spe
Externí odkaz:
https://doaj.org/article/be0b7360900245738bb5fa3eedf88913
Autor:
Singh, Balwinder, Parikh, Sagar V., Voort, Jennifer L. Vande, Pazdernik, Vanessa K., Achtyes, Eric D., Goes, Fernando S., Yocum, Anastasia K., Nykamp, Louis, Becerra, Alexis, Smart, LeAnn, Greden, John F., Bobo, William V., Frye, Mark A., Burdick, Katherine E., Ryan, Kelly A.
Publikováno v:
In Psychiatry Research May 2024 335
Autor:
Ansari, Morad, Faour, Kamli N.W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J.L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O’Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.
Publikováno v:
In Human Genetics and Genomics Advances 11 April 2024 5(2)