-
1دورية أكاديمية
المؤلفون: Yang, Fang, Begemann, Anais, Reichhart, Nadine, Haeckel, Akvile, Steindl, Katharina, Schellenberger, Eyk, Sturm, Ronja Fini, Barth, Magalie, Bassani, Sissy, Boonsawat, Paranchai, Courtin, Thomas, Delobel, Bruno, Gunning, Boudewijn, Hardies, Katia, Jennesson, Mélanie, Legoff, Louis, Linnankivi, Tarja, Prouteau, Clément, Smal, Noor, Spodenkiewicz, Marta, Toelle, Sandra P., Van Gassen, Koen, Van Paesschen, Wim, Verbeek, Nienke, Ziegler, Alban, Zweier, Markus, Horn, Anselm H.C., Sticht, Heinrich, Lerche, Holger, Weckhuysen, Sarah, Strauß, Olaf, Rauch, Anita
المصدر: In The American Journal of Human Genetics 6 June 2024 111(6):1184-1205
-
2دورية أكاديمية
المؤلفون: Van Haute, Lindsey, O’Connor, EmilyAff2, Aff3, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, KiranAff2, Aff3, Aff6, Hock, Daniella H., Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, Nikeisha J.Aff7, Aff12, Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Murphy, David, Nandeesh, BevinahalliAff6, Aff16, Olimpio, Catarina, Powell, Christopher A., Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, RocioAff14, Aff17, Rebelo-Guiomar, Pedro, Simons, Cas, Vengalil, Seena, Zaki, Maha S., Ziegler, Alban, Thorburn, David R.Aff14, Aff17, Stroud, David A.Aff7, Aff14, Maroofian, Reza, Christodoulou, JohnAff14, Aff17, Gustafsson, Claes, Nalini, Atchayaram, Lochmüller, HannsAff2, Aff3, Minczuk, MichalAff1, IDs41467023362777_cor40, Horvath, RitaAff5, IDs41467023362777_cor41
المصدر: Nature Communications. 14(1)
-
3دورية أكاديمية
المؤلفون: Ferdinandusse, Sacha, McWalter, Kirsty, Te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos PN, van Lint, Alida EM, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Undiagnosed Diseases Network, Waisfisz, Quinten, Zwijnenburg, Petra JG, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine HC, Wanders, Ronald JA, Waterham, Hans R, Cassiman, David, Vaz, Frédéric M
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)
مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Spastic Paraplegia, Hereditary, Ethers, Aldehyde Oxidoreductases, Lipids, Phenotype, Neurosciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Neurological, Genetics & Heredity, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/434856qx
-
4دورية أكاديمية
المؤلفون: Lodewyckx, Pierre, Issa, Jean, Gaschignard, Margaux, Lamireau, Delphine, De Lonlay, Pascale, Servais, Aude, Barth, Magalie, Courapied, Sandy, Morin, Gilles, Benbrik, Nadir, Maillot, François, Babuty, Dominique, Labarthe, François, Lefort, Bruno
المصدر: In Molecular Genetics and Metabolism December 2023 140(4)
-
5دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
6دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
8دورية أكاديمية
المؤلفون: Denommé-Pichon, Anne-SophieAff1, Aff2, Aff3, IDs41431021009984_cor1, Vitobello, AntonioAff1, Aff2, Olaso, RobertAff4, Aff5, Ziegler, Alban, Jeanne, MédéricAff7, Aff8, Tran Mau-Them, FrédéricAff1, Aff2, Couturier, Victor, Racine, CarolineAff1, Aff2, Aff3, Isidor, BertrandAff9, Aff10, Poë, Charlotte, Jouan, Thibaud, Boland, Anne, Fin, Bertrand, Bacq-Daian, Delphine, Besse, Céline, Garde, AuroreAff1, Aff2, Aff3, Prost, AdelineAff1, Aff2, Garret, Philippine, Tisserant, ÉmilieAff1, Aff2, Delanne, JulianAff2, Aff3, Nambot, SophieAff2, Aff3, Juven, AurélienAff1, Aff2, Gorce, Magali, Nizon, MathildeAff9, Aff10, Vincent, MarieAff9, Aff10, Moutton, SébastienAff2, Aff3, Fradin, MélanieAff11, Aff12, Lavillaureix, Alinoë, Rollier, Paul, Capri, Yline, Van-Gils, Julien, Busa, Tiffany, Sigaudy, Sabine, Pasquier, Laurent, Barth, Magalie, Bruel, Ange-LineAff1, Aff2, Flamant, Cyril, Prouteau, Clément, Bonneau, Dominique, Toutain, AnnickAff7, Aff8, Chantegret, Corinne, Callier, PatrickAff2, Aff18, Philippe, ChristopheAff1, Aff2, Duffourd, YannisAff1, Aff2, Deleuze, Jean-FrançoisAff4, Aff19, Sorlin, ArthurAff1, Aff2, Aff3, Faivre, LaurenceAff2, Aff3, Thauvin-Robinet, ChristelAff1, Aff2, Aff20, IDs41431021009984_cor48
المصدر: European Journal of Human Genetics. 30(5):567-576
-
9دورية أكاديمية
المؤلفون: Sevin, Caroline, Barth, Magalie, Wilds, Alexandra, Afriyie, Abena, Walz, Markus, Dillon, Annamarie, Howie, Kenneth, Pang, FrancisAff3, IDs13023022025018_cor8
المصدر: Orphanet Journal of Rare Diseases. 17(1)
-
10دورية أكاديمية
المؤلفون: Fasano, Giulia, Muto, Valentina, Radio, Francesca Clementina, Venditti, Martina, Mosaddeghzadeh, Niloufar, Coppola, Simona, Paradisi, GraziamariaAff1, Aff4, Zara, ErikaAff1, Aff5, Bazgir, Farhad, Ziegler, AlbanAff6, Aff7, Chillemi, GiovanniAff4, Aff8, Bertuccini, Lucia, Tinari, Antonella, Vetro, Annalisa, Pantaleoni, Francesca, Pizzi, Simone, Conti, Libenzio Adrian, Petrini, Stefania, Bruselles, Alessandro, Prandi, Ingrid Guarnetti, Mancini, Cecilia, Chandramouli, Balasubramanian, Barth, Magalie, Bris, CélineAff6, Aff7, Milani, Donatella, Selicorni, Angelo, Macchiaiolo, Marina, Gonfiantini, Michaela V., Bartuli, Andrea, Mariani, Riccardo, Curry, Cynthia J., Guerrini, Renzo, Slavotinek, Anne, Iascone, Maria, Dallapiccola, Bruno, Ahmadian, Mohammad Reza, Lauri, AntonellaAff1, IDs4146702234354x_cor37, Tartaglia, MarcoAff1, IDs4146702234354x_cor38
المصدر: Nature Communications. 13(1)