Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Raymond Lewandowski"'
Autor:
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.
Externí odkaz:
https://doaj.org/article/360ad6a6ef7c4ee28aed4090b30bd7e5
Autor:
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with
Externí odkaz:
https://doaj.org/article/2f149b8196854879821d3ece66218bf2
Publikováno v:
MedEdPublish, Vol 9, Iss 1 (2020)
The Australian College of Rural and Remote Medicine (ACRRM) has developed a flexible 'tele-assessment' approach to the delivery of its assessment modalities. Candidates can sit their examination remotely, close to their place of practice, which reduc
Externí odkaz:
https://doaj.org/article/24e79864433c47e08abe9568e7367661
Autor:
Robert A. Hegele, Maria Iascone, Kevin A. Shapiro, Nicolas Chatron, Marwan Shinawi, Joel Charrow, Jeffrey W. Innis, Luitgard Graul-Neumann, Joanna Goes Castro Meira, Anna Lehman, Dawn L. Earl, Victoria R. Sanders, Shannon Rego, David A. Sweetser, Clémantine Dimartino, Wilhelmina S. Kerstjens-Frederikse, Antonio Vitobello, Davor Lessel, Daniel Grinberg, Laurence Faivre, Ryan Peretz, Katherine M. Christensen, Emma Reesor, Erin Beaver, Elizabeth Wohler, Margot R.F. Reijnders, Deborah Barbouth, Anna Cereda, Kaja Kristine Selmer, Melissa A. Walker, Barbro Stadheim, Alessandro Serretti, Helen Kingston, Jill Clayton-Smith, Raymond Lewandowski, Bernarda Lozić, Robert Stratton, Amelia Kirby, Anne H. O’Donnell-Luria, Sara Gabbiadini, Susanna Balcells, Myriam Oufadem, Christel Thauvin, Maha Aly, Wendy K. Chung, Susan M. White, Lauren C. Briere, Thomas Smol, Stanislas Lyonnet, Roberto Colombo, Catherine E. Keegan, Marie T. McDonald, Melanie Parisot, Tiong Yang Tan, Brian Wong, Christopher T. Gordon, Magnus Dehli Vigeland, Frances A. High, Emily Bryant, Audrey Labalme, Nara Sobreira, Arnold Munnich, Jeanne Amiel, Dayna Morel Swols, Raquel Rabionet, Laura Castilla-Vallmanya, Jennifer Heeley, Gunnar Houge, Michael J. Gambello, Bernardo Blanco-Sánchez, Lynn Pais, Olena M. Vaske, Roser Urreizti, Alison Wray, Veronique Pingault, Damien Sanlaville, John Christodoulou, John Millichap, Valérie Cormier-Daire, Parul Jayakar, Helen Cox, Frédéric Tran Mau-Them, Belinda Chong, Victoria Mok Siu, Anne Slavotinek, Antonie J. van Essen, Ingvild Aukrust, Lorne A. Clarke, Rachel Gannaway, Anne Dieux-Coeslier, Patrick Nitschké, Tony Yao, Simon Sadedin, Danielle Karlowicz, Christelle Rougeot, Christine Bole-Feysot, Sandra Yang, Megan T. Cho, Gaetan Lesca, Christiane Zweier
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med
PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We
Publikováno v:
Journal of Genetic Counseling. 28:1198-1207
In hereditary cancer, multigene panel testing is currently replacing older single-gene approaches. Patients whose tests were previously uninformative could benefit from updated testing. Research suggests that patients desire to be recontacted about u
Autor:
M Gutiérrez, Brian A. Korgel, Raymond Lewandowski, Yixuan Yu, Joel van Embden, Vikas Reddy Voggu, Jacek J. Jasieniak, David A. Vanden Bout, Douglas R. Pernik, Alexander J. Topping, Cherrelle J. Thomas
Publikováno v:
ACS Energy Letters. 1:1021-1027
Plastic photovoltaic devices (PVs) were fabricated by spray-depositing copper indium diselenide (CuInSe2) nanocrystals into micrometer-scale groove features patterned into polyethylene terephthalate (PET) substrates. Each groove has sidewall coatings
Autor:
Amy M. Breman, Marta W. Vieira, Jonathan A. Bernstein, Bret L. Bostwick, Jill A. Rosenfeld, Bernt Popp, Raymond Lewandowski, Patrick Rump, Katie Bergstrom, Sarah Scollon, Sarju G. Mehta, Erica E. Davis, Donald W. Parsons, Leah Slattery, Surya P. Rednam, Erica M. Fernandes, Haley Streff, Francesco Vetrini, Tahir N. Khan, Rui Xiao, Carlos A. Bacino, Pawel Stankiewicz, Johanna C. Acosta Guio, Przemyslaw Szafranski, Sharon E. Plon, Juliane Hoyer, Wagner A.R. Baratela, André Reis, Chester W. Brown, Ruth Armstrong, Nicholas Katsanis, Rolph Pfundt, Sha Tang, Caio Robledo D'Angioli Costa Quaio, Janice L. Smith, Yaping Yang, Deepali N. Shinde, Christiane Zweier
Publikováno v:
American Journal of Human Genetics, 101(4), 503-515. CELL PRESS
American Journal of Human Genetics, 101, 4, pp. 503-515
American Journal of Human Genetics, 101, 503-515
American Journal of Human Genetics, 101, 4, pp. 503-515
American Journal of Human Genetics, 101, 503-515
Contains fulltext : 182555.pdf (Publisher’s version ) (Closed access) Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::655e87fa6369198167b13fb0201b98c6
https://doi.org/10.1016/j.ajhg.2017.08.014
https://doi.org/10.1016/j.ajhg.2017.08.014
Autor:
Sylvette Laurent-Lewandowski, Raymond Lewandowski, Andre Begin, Mélanie Brunelle, Youssef Elazhary, Marie-Rose Van Calsteren, Brian G. Talbot, Pascal Y. Vuillaume
Publikováno v:
Biomacromolecules. 6(3)
A new series of linear and permanently charged poly(amidoammonium) salts were synthesized in order to investigate the influence of their ionic and hydrophobic contents on both the cytotoxicity and the transfection mediated by polycation-DNA complexes
Publikováno v:
Analytica Chimica Acta. 42:162-165