Zobrazeno 1 - 10
of 126
pro vyhledávání: '"Barat-Houari Mouna"'
Autor:
Haghshenas, Sadegheh, Putoux, Audrey, Reilly, Jack, Levy, Michael A., Relator, Raissa, Ghosh, Sourav, Kerkhof, Jennifer, McConkey, Haley, Edery, Patrick, Lesca, Gaetan, Besson, Alicia, Coubes, Christine, Willems, Marjolaine, Ruiz-Pallares, Nathalie, Barat-Houari, Mouna, Tizzano, Eduardo F., Valenzuela, Irene, Sabbagh, Quentin, Clayton-Smith, Jill, Jackson, Adam, O’Sullivan, James, Bromley, Rebecca, Banka, Siddharth, Genevieve, David, Sadikovic, Bekim
Publikováno v:
In Genetics in Medicine October 2024 26(10)
Autor:
Sabbagh, Quentin, Haghshenas, Sadegheh, Piard, Juliette, Trouvé, Chloé, Amiel, Jeanne, Attié-Bitach, Tania, Balci, Tugce, Barat-Houari, Mouna, Belonis, Alyce, Boute, Odile, Brightman, Diana S., Bruel, Ange-Line, Caraffi, Stefano Giuseppe, Chatron, Nicolas, Collet, Corinne, Dufour, William, Edery, Patrick, Fong, Chin-To, Fusco, Carlo, Gatinois, Vincent, Gouy, Evan, Guerrot, Anne-Marie, Heide, Solveig, Joshi, Aakash, Karp, Natalya, Keren, Boris, Lesieur-Sebellin, Marion, Levy, Jonathan, Levy, Michael A., Lozano, Claire, Lyonnet, Stanislas, Margot, Henri, Marzin, Pauline, McConkey, Haley, Michaud, Vincent, Nicolas, Gaël, Nizard, Mevyn, Paulet, Alix, Peluso, Francesca, Pernin, Vincent, Perrin, Laurence, Philippe, Christophe, Prasad, Chitra, Prasad, Madhavi, Relator, Raissa, Rio, Marlène, Rondeau, Sophie, Ruault, Valentin, Ruiz-Pallares, Nathalie, Sanchez, Elodie, Shears, Debbie, Siu, Victoria Mok, Sorlin, Arthur, Tedder, Matthew, Tharreau, Mylène, Mau-Them, Frédéric Tran, van der Laan, Liselot, Van Gils, Julien, Verloes, Alain, Whalen, Sandra, Willems, Marjolaine, Yauy, Kévin, Zuntini, Roberta, Kerkhof, Jennifer, Sadikovic, Bekim, Geneviève, David
Publikováno v:
In Genetics in Medicine January 2024 26(1)
Autor:
Hercberg Serge, Galan Pilar, Bell Christopher G, Vasseur-Delannoy Valérie, Eberlé Delphine, Clément Karine, Vatin Vincent, Dina Christian, Vasseur Francis, Barat-Houari Mouna, Guérardel Audrey, Helbecque Nicole, Potoczna Natascha, Horber Fritz F, Boutin Philippe, Froguel Philippe
Publikováno v:
BMC Genetics, Vol 6, Iss 1, p 19 (2005)
Abstract Background Cocaine and amphetamine regulated transcript (CART) is an anorectic neuropeptide located principally in hypothalamus. CART has been shown to be involved in control of feeding behavior, but a direct relationship with obesity has no
Externí odkaz:
https://doaj.org/article/2652394fb36b4528ac191ea753ecc828
Autor:
Sabbagh, Quentin, Tharreau, Mylène, Cenni, Camille, Sanchez, Elodie, Ruiz-Pallares, Nathalie, Alkar, Fanny, Amouroux, Cyril, David, Stéphanie, Prodhomme, Olivier, Leboucq, Nicolas, Meunier, Isabelle, Bessis, Didier, Theron, Alexandre, Barat-Houari, Mouna, Willems, Marjolaine
Publikováno v:
In European Journal of Medical Genetics May 2023 66(5)
Autor:
Rouxel, Flavien, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Dias, Patricia, Barat-Houari, Mouna, Bednarek, Nathalie, Boute, Odile, Chatron, Nicolas, Cherik, Florian, Delahaye-Duriez, Andrée, Doco-Fenzy, Martine, Faivre, Laurence, Gauthier, Lucas W., Heron, Delphine, Hildebrand, Michael S., Lesca, Gaëtan, Lespinasse, James, Mazel, Benoit, Menke, Leonie A., Morgan, Angela T., Pinson, Lucile, Quelin, Chloe, Rossi, Massimiliano, Ruiz-Pallares, Nathalie, Tran-Mau-Them, Frederic, Van Kessel, Imke N., Vincent, Marie, Weber, Mathys, Willems, Marjolaine, Leguyader, Gwenael, Sadikovic, Bekim, Genevieve, David
Publikováno v:
In Genetics in Medicine May 2022 24(5):1096-1107
Autor:
Bessis, Didier, Poujade, Laura, Cossée, Mireille, Boursier, Guilaine, Barat-Houari, Mouna, Tharreau, Mylene, Durand, Luc, Aguilar, Simon-Cabello, Solassol, Jérome, Willems, Marjolaine, Vendrell, Julie
Publikováno v:
British Journal of Dermatology; Oct2024, Vol. 191 Issue 4, p641-644, 4p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Publikováno v:
In Genetics in Medicine November 2023 25(11)
Autor:
de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline, Helm, Benjamin, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally, Mathijssen, Irene, Mcgowan, Ruth, Monaghan, Kristin, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, Stegmann, Alexander, Swagemakers, Sigrid, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, Wéber, Mathys, Gilissen, Christian, Low, Karen, Fisher, Simon, Dingemans, Alexander J.M., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Santen, Gijs W.E., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Publikováno v:
de Boer, E, Ockeloen, C W, Kampen, R A, Hampstead, J E, Dingemans, A J M, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, H Z, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, J A C, Helm, B M, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, S A, Mathijssen, I M J, McGowan, R, Monaghan, K G, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, G W E, Sasaki, E, Sorlin, A, van der Spek, P J, Stegmann, A P A, Swagemakers, S M A, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, S M, Wéber, M, Gilissen, C, Low, K J, Fisher, S E, Vissers, L E L M, Wong, M M K & Kleefstra, T 2022, ' Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein ', Genetics in Medicine, vol. 24, no. 10, pp. 2051-2064 . https://doi.org/10.1016/j.gim.2022.06.007
Genetics in Medicine, 24, 2051-2064
Genetics in Medicine, 24(10), 2051-2064. Nature Publishing Group
Genetics in Medicine, 24(10), 2051-2064. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine, 2022, 24 (10), pp.2051-2064. ⟨10.1016/j.gim.2022.06.007⟩
Genetics in Medicine, 24, 10, pp. 2051-2064
Scientia
Genetics in Medicine, 24(10), 2051-2064. ELSEVIER SCIENCE INC
Genetics in Medicine, 24, 2051-2064
Genetics in Medicine, 24(10), 2051-2064. Nature Publishing Group
Genetics in Medicine, 24(10), 2051-2064. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine, 2022, 24 (10), pp.2051-2064. ⟨10.1016/j.gim.2022.06.007⟩
Genetics in Medicine, 24, 10, pp. 2051-2064
Scientia
Genetics in Medicine, 24(10), 2051-2064. ELSEVIER SCIENCE INC
KBG syndrome; Missense variants; Neurodevelopmental disorders Síndrome KBG; Variants de missense; Trastorns del neurodesenvolupament Síndrome KBG; Variantes de missense; Trastornos del neurodesarrollo Purpose Although haploinsufficiency of ANKRD11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244a1f99ac7803d8c7cddcccfffebcec
https://hdl.handle.net/1887/3561457
https://hdl.handle.net/1887/3561457
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.