Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Autor: Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth

Publikováno v: In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642

Characterization of the First Prototype of an Angular Independent Silicon Diode Array for Quality Assurance in Stereotactic Radiosurgery

Autor: Aishah Bashiri, Sean Hood, Jessie Posar, Yashiv Dookie, Joanne McNamara, Joel Poder, Fathimat Zahra, Michael L. F. Lerch, Anatoly B. Rosenfeld, Marco Petasecca

Publikováno v: Applied Sciences, Vol 14, Iss 13, p 5883 (2024)

Quality assurance (QA) ensures the accurate and safe delivery of radiation treatment. However, there are several challenges for advanced radiotherapy techniques, such as stereotactic radiosurgery (SRS), where substantial doses of radiation with multi

Externí odkaz: https://doaj.org/article/da5e9ce3bb804d84979ff3110778e56a

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Design Parameters and Human Biocompatibility Assessment Protocols for Organic Semiconducting Neural Interfaces: Toward a Printed Artificial Retina with Color Vision

Autor: Connor P. Sherwood, Rafael Crovador, Jessie A. Posar, Nathan Brichta, Matthew P. Simunovic, Fiona Louie, Paul C. Dastoor, Alan M. Brichta, Julie M. Cairney, Natalie P. Holmes, Rebecca Lim, Matthew J. Griffith

Publikováno v: Advanced Materials Interfaces, Vol 10, Iss 19, Pp n/a-n/a (2023)

Abstract Organic semiconductors have emerged as promising neural interfacing materials due to their innate biocompatibility, soft mechanical properties, and mixed electron/ion conduction. One exciting application is their use as artificial photosenso

Externí odkaz: https://doaj.org/article/71481be538cb426ca5353b13990fd50e