Zobrazeno 1 - 10
of 128
pro vyhledávání: '"Escande A"'
Autor:
Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande‐Beillard, Bruno Reversade
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)
Abstract Somatic and germline gain‐of‐function point mutations in RAF, one of the first oncogenes to be discovered in humans, delineate a group of tumor‐prone syndromes known as the RASopathies. In this study, we document the first human phenot
Externí odkaz:
https://doaj.org/article/12fc7fb5e634482b982be6cd3b0c8a2c
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
Autor:
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 2, Pp n/a-n/a (2023)
Abstract Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non‐coding regions, which make up 98% of the genome, cannot be captured. The lack of functional ann
Externí odkaz:
https://doaj.org/article/921d307af59a483894117f4547a0983f
Autor:
Santos, Leonardo, Patrone, Mariana, Prieto-Echagüe, Victoria, Lapi, Silvana, Perdomo, Mauro, Vaucher, Andrea, Rodriguez, Gustavo, Valsangiacomo, Pablo, Naya, Hugo, Escande, Carlos, Badano, Jose L., Spangenberg, Lucia, Bruno, Gustavo
Publikováno v:
Scientific Reports; 7/2/2024, Vol. 14 Issue 1, p1-9, 9p
Publikováno v:
Optimization & Engineering; Jun2024, Vol. 25 Issue 2, p759-794, 36p
Publikováno v:
Reviews of Modern Plasma Physics; 4/15/2024, Vol. 8 Issue 1, p1-48, 48p
Autor:
Marchal, Marine, Leroy, Vincent, Behal, Hélène, Dansin, Eric, Paris, Nicolas, Bordier, Soraya, Humez, Sarah, Escande, Fabienne, Gauvain, Clément, Cortot, Alexis B.
Publikováno v:
Targeted Oncology; Nov2023, Vol. 18 Issue 6, p927-939, 13p
Publikováno v:
Journal of Medical Systems; 2023, Vol. 47 Issue 1, p1-6, 6p
Autor:
Weiss, Pierre1 (AUTHOR) pierre.armand.weiss@gmail.com, Escande, Paul2 (AUTHOR), Bathie, Gabriel3 (AUTHOR), Dong, Yiqiu4 (AUTHOR)
Publikováno v:
International Journal of Computer Vision. Aug2019, Vol. 127 Issue 8, p1144-1161. 18p. 7 Diagrams, 6 Charts, 2 Graphs.
Autor:
Duhamel, Marie, Drelich, Lauranne, Wisztorski, Maxence, Aboulouard, Soulaimane, Gimeno, Jean-Pascal, Ogrinc, Nina, Devos, Patrick, Cardon, Tristan, Weller, Michael, Escande, Fabienne, Zairi, Fahed, Maurage, Claude-Alain, Le Rhun, Émilie, Fournier, Isabelle, Salzet, Michel
Publikováno v:
Nature Communications; 11/4/2022, Vol. 13 Issue 1, p1-16, 16p
Autor:
Mascibroda, Lauren G., Shboul, Mohammad, Elrod, Nathan D., Colleaux, Laurence, Hamamy, Hanan, Huang, Kai-Lieh, Peart, Natoya, Singh, Moirangthem Kiran, Lee, Hane, Merriman, Barry, Jodoin, Jeanne N., Sitaram, Poojitha, Lee, Laura A., Fathalla, Raja, Al-Rawashdeh, Baeth, Ababneh, Osama, El-Khateeb, Mohammad, Escande-Beillard, Nathalie, Nelson, Stanley F., Wu, Yixuan
Publikováno v:
Nature Communications; 10/13/2022, Vol. 13 Issue 1, p1-17, 17p