Results 91 to 100 of about 13,939 (267)

Genome-wide patterns and properties of de novo mutations in humans

Nature Genetics, 2015
Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect. Here we analyze 11,020 de novo mutations from the whole genomes of 250 families. We show
L. Francioli, P. Polak, A. Koren, A. Menelaou, S. Chun, I. Renkens, C. Duijn, M. Swertz, C. Wijmenga, G. Ommen, P. Slagboom, D. Boomsma, Kai Ye, Kai Ye, V. Guryev, P. Arndt, W. Kloosterman, P. D. Bakker, S. Sunyaev   +18 more
semanticscholar   +1 more source

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Casitas B‐lineage lymphoma (CBL) encodes an adaptor protein with E3‐ligase activity negatively controlling intracellular signaling downstream of receptor tyrosine kinases. Somatic CBL mutations play a driver role in a variety of cancers, particularly myeloid malignancies, whereas germline defects in the same gene underlie a RASopathy having ...
Emilia Stellacci, Jennefer N. Carter, Luca Pannone, David Stevenson, Dorsa Moslehi, Serenella Venanzi, Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al‐Beshri, Eric Allenspach, Aimee Allworth, Raquel L. Alvarez, Justin Alvey, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Guney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Erin Baldwin, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Jonathan A. Bernstein, Gerard T. Berry,, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Nicholas Borja, Lorenzo Botto, Lauren C. Briere, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, Kaitlin Callaway, John Carey, George Carvalho, Thomas Cassini, Sirisak Chanprasert, Hsiao‐Tuan Chao, Ivan Chinn, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Brian Corner, Rosario I. Corona, William J. Craigen, Andrew B. Crouse, Vishnu Cuddapah, Precilla D'Souza, Hongzheng Dai, Kahlen Darr, Surendra Dasari, Joie Davis, Margaret Delgado, Esteban C. Dell'Angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Jessica Douglas, Emilie D. Douine, Dawn Earl, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Kimberly Ezell, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Jiayu Fu, William A. Gahl, Rebecca Ganetzky, Emily Glanton, Ian Glass, Page C. Goddard, Joanna M. Gonzalez, Andrea Gropman, Meghan C. Halley, Rizwan Hamid, Neal Hanchard, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike‐Pyne, Alden Huang, Yan Huang, Anna Hurst, Wendy Introne, Gail P. Jarvik, Suman Jayadev, Orpa Jean‐Marie, Vaidehi Jobanputra, Oguz Kanca, Yigit Karasozen, Shamika Ketkar, Dana Kiley, Gonench Kilich, Eric Klee, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Carter, Bruce Korf, Susan Korrick, Deborah Krakow, Elijah Kravets, Seema R. Lalani, Christina Lam, Brendan C. Lanpher, Ian R. Lanza, Kumarie Latchman, Kimberly LeBlanc, Brendan H. Lee, Kathleen A. Leppig, Richard A. Lewis, Pengfei Liu, Nicola Longo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, AudreyStephannie Maghiro, Rachel Mahoney, May Christine V. Malicdan, Rong Mao, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez‐Agosto, Shruti Marwaha, Allyn McConkie‐Rosell, Ashley McMinn, Matthew Might, Mohamad Mikati, Danny Miller, Ghayda Mirzaa, Breanna Mitchell, Paolo Moretti, Marie Morimoto, John J. Mulvihill, Lindsay Mulvihill, Mariko Nakano‐Okuno, Stanley F. Nelson, Serena Neumann, Dargie Nitsuh, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Neil H. Parker, LéShon Peart, Leoyklang Petcharet, John A. Phillips III, Filippo Pintoe Vairo, Jennifer E. Posey, Lorraine Potocki, Barbara N. Pusey Swerdzewski, Aaron Quinlan, Daniel J. Rader, Ramakrishnan Rajagopalan, Deepak A. Rao, Anna Raper, Wendy Raskind, Adriana Rebelo, Chloe M. Reuter, Lynette Rives, Lance H. Rodan, Martin Rodriguez, Jill A. Rosenfeld, Elizabeth Rosenthal, Francis Rossignol, Maura Ruzhnikov, Marla Sabaii, Jacinda B. Sampson, Timothy Schedl, Lisa Schimmenti, Kelly Schoch, Daryl A. Scott, Elaine Seto, Vandana Shashi, Emily Shelkowitz, Sam Sheppeard, Jimann Shin, Edwin K. Silverman, Giorgio Sirugo, Kathy Sisco, Tammi Skelton, Cara Skraban, Carson A. Smith, Kevin S. Smith, Lilianna Solnica‐Krezel, Ben Solomon, Rebecca C. Spillmann, Andrew Stergachis, Joan M. Stoler, Kathleen Sullivan, Shamil R. Sunyaev, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Queenie Tan, Arjun Tarakad, Herman Taylor, Mustafa Tekin, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Rachel A. Ungar, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Melissa Walker, Nicole M. Walley, Jennifer Wambach, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz Hubshman, Mark Wener, Tara Wenger, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Heidi Wood, Kim Worley, Shinya Yamamoto, Zhe Zhang, Stephan Zuchner, Jonathan A. Bernstein, Marco Tartaglia, Simone Martinelli   +258 more
wiley   +1 more source

Artificial relations between quantities at nearest nodes or cells and the Newton iteration procedure for the modified pressure correction method

Computer Assisted Methods in Engineering and Science, 2023
In this article a method for calculation of the finite-difference Navier- Stokes equations with a time step ∆t = h/uflow (h is the average cell's size, uflow flow velocity) at the minimal expenses of computer time is suggested.
Shamil F. Araslanov
doaj  

Occupational post‐exposure prophylaxis among healthcare workers: a scoping review of factors affecting optimal utilization

Journal of the International AIDS Society, Volume 27, Issue 8, August 2024.
Abstract Introduction Post‐exposure prophylaxis (PEP) is an efficacious prevention method when initiated promptly after an HIV exposure. Yet, PEP has been underutilized, even among healthcare workers (HCWs) with occupational exposure in sites with PEP policies and procedures and access to PEP medications.
Judith D. Auerbach, Siobhan Malone, Andrew D. Forsyth   +2 more
wiley   +1 more source

The impact of modern global art movements on Graphic Design

الاكاديمي, 2016
The significant shift in the Fine Arts, who led the avant-garde movements and creative which appeared in the modern, specifically in the mid-nineteenth century and early twentieth century era path, embodied in a clear show of new aesthetic value rejects ...
Bashar Shamil Kadhim
doaj   +1 more source

M. P. Mussorgsky’s “Shamil”. Study and Reconstruction Effort

Научный вестник Московской консерватории, 2020
В статье впервые представлено неизвестное сочинение Мусоргского для мужского хора и фортепиано (1859), названное В. Г. Каратыгиным «Маршем Шамиля». Даны характеристики автографа и музыкальной стилистики хора; выявлен обширный исторический контекст; на основе сохранившегося авторского клавира впервые реконструирован полный нотный текст (публикуется в ...
openaire   +1 more source

Board characteristics and sustainability in higher education institutions: The case of the United Kingdom

Higher Education Quarterly, Volume 78, Issue 3, Page 898-917, July 2024.
Abstract We explored the relationship between board characteristics and sustainability of higher education institutions in the United Kingdom (UK). We analysed 153 UK universities using data for the year 2019. Our analysis revealed that board size, the number of students on the board, and the number of academic members on the board were found to have ...
Doaa Aly, Muath Abdelqader, Tamer K. Darwish, Anna Toporkiewicz, Ali Radwan   +4 more
wiley   +1 more source

Adapting Sequence Models for Sentence Correction

, 2017
In a controlled experiment of sequence-to-sequence approaches for the task of sentence correction, we find that character-based models are generally more effective than word-based models and models that encode subword information via convolutions, and ...
Kim, Yoon, Rush, Alexander M., Schmaltz, Allen, Shieber, Stuart M.   +3 more
core   +1 more source

Ceramic Braziers Found at the Bronze Age Monuments of Azerbaijan

Нижневолжский археологический вестник
During the excavations of the Bronze Age archaeological sites in Azerbaijan, clay braziers were found among the artifacts revealed in the residential areas and, very rarely, in the grave monuments.
Shamil N. Najafov
doaj   +1 more source

DESIGN AND SIMULATION OF A HIGH PERFORMANCE CMOS VOLTAGE DOUBLERS USING CHARGE REUSE TECHNIQUE [PDF]

Journal of Engineering Science and Technology, 2017
Voltage doubler (VD) structure plays an important role in charge pump (CP) circuits. It provides a voltages that is higher than the voltage of the power supply or a voltage of reverse polarity.
SHAMIL H. HUSSEIN
doaj