-
1دورية أكاديمية
المؤلفون: Grünert, Sarah C., Gautschi, Matthias, Baker, Joshua, Boyer, Monica, Burlina, Alberto, Casswall, Thomas, Corpeleijn, Willemijn, Çıki, Kismet, Cotter, Melanie, Crushell, Ellen, Derks, Terry G.J., Haas, Dorothea, Kilavuz, Sebile, Kingma, Sandra D.K., Korman, Stanley H., Kozek, Anne, de Laet, Corinne, Mundy, Helen, Nassogne, Marie Cecile, Quintero, Victor, Rossi, Alessandro, Spenger, Johannes, Spiegel, Ronen, Stephenne, Xavier, Stojkov, Darko, Tal, Galit, Veiga-da Cunha, Maria, Wortmann, Saskia B.
المصدر: In Molecular Genetics and Metabolism June 2024 142(2)
-
2دورية أكاديميةNonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy
المؤلفون: Marek-Yagel, DinaAff1, Aff2, Aff3, Stenke, Emily, Pode-Shakked, BenAff1, Aff3, Aff5, Dunne, CaraAff4, Aff6, Crushell, Ellen, Bryce-Smith, Anthea, McDermott, Michael, O’Sullivan, Maureen J., Veber, Alvit, Krishnamurthy, MansaAff9, Aff10, Wells, James M.Aff5, Aff9, Aff10, Anikster, YairAff1, Aff3, Aff11, Bourke, BillyAff4, Aff12, IDs00439022024861_cor13
المصدر: Human Genetics. 142(5):691-696
-
3دورية أكاديمية
المؤلفون: Hammann, Nicole, Lenz, Dominic, Baric, Ivo, Crushell, Ellen, Vici, Carlo Dionisi, Distelmaier, Felix, Feillet, Francois, Freisinger, Peter, Hempel, Maja, Khoreva, Anna L., Laass, Martin W., Lacassie, Yves, Lainka, Elke, Larson-Nath, Catherine, Li, Zhongdie, Lipiński, Patryk, Lurz, Eberhard, Mégarbané, André, Nobre, Susana, Olivieri, Giorgia, Peters, Bianca, Prontera, Paolo, Schlieben, Lea D., Seroogy, Christine M., Sobacchi, Cristina, Suzuki, Shigeru, Tran, Christel, Vockley, Jerry, Wang, Jian-She, Wagner, Matias, Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Staufner, Christian
المصدر: In Molecular Genetics and Metabolism March 2024 141(3)
-
4دورية أكاديميةClinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities
المصدر: In Molecular Genetics and Metabolism December 2023 140(4)
-
5دورية أكاديمية
المؤلفون: Bolton, Shaun C.Aff1, IDs13023022022004_cor1, Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C., Vanier, Marie T.Aff15, Aff16, Geberhiwot, Tarekegn
المصدر: Orphanet Journal of Rare Diseases. 17(1)
-
6دورية أكاديمية
المؤلفون: Lenz, Dominic, Pahl, Jens, Hauck, FabianAff3, Aff4, Aff5, Alameer, SehamAff6, Aff7, Aff8, Balasubramanian, MeenaAff9, Aff10, Baric, Ivo, Boy, Nikolas, Church, Joseph A., Crushell, Ellen, Dick, Anke, Distelmaier, Felix, Gujar, Jidnyasa, Indolfi, Giuseppe, Lurz, Eberhard, Peters, Bianca, Schwerd, Tobias, Serranti, Daniele, Kölker, Stefan, Klein, ChristophAff3, Aff4, Aff5, Hoffmann, Georg F., Prokisch, HolgerAff17, Aff18, Greil, Johann, Cerwenka, Adelheid, Giese, Thomas, Staufner, ChristianAff1, IDs10875021011107_cor25
المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 41(8):1781-1793
-
7دورية أكاديمية
المؤلفون: Lenz, Dominic, Schlieben, Lea D., Masaru Shimura, Bianzano, Alyssa, Smirnov, Dmitrii, Kopajtich, Robert, Berutti, Riccardo, Adam, Rüdiger, Aldrian, Denise, Baric, Ivo, Baumann, Ulrich, Bozbulut, Neslihan E., Brugger, Melanie, Brunet, Theresa, Bufler, Philip, Burnytė, Birutė, Calvo, Pier L., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M.
المصدر: Hepatology (02709139); May2024, Vol. 79 Issue 5, p1075-1087, 13p
-
8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
9دورية أكاديمية
المؤلفون: Staufner, Christian, Peters, Bianca, Wagner, MatiasAff2, Aff3, Aff4, Alameer, Seham, Barić, Ivo, Broué, Pierre, Bulut, Derya, Church, Joseph A., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M., Dick, Anke, Dikow, Nicola, Dionisi-Vici, Carlo, Distelmaier, Felix, Bozbulut, Neslihan Ekşi, Feillet, François, Gonzales, Emmanuel, Hadzic, Nedim, Hauck, Fabian, Hegarty, Robert, Hempel, Maja, Herget, Theresia, Klein, Christoph, Konstantopoulou, Vassiliki, Kopajtich, RobertAff2, Aff3, Kuster, Alice, Laass, Martin W., Lainka, Elke, Larson-Nath, Catherine, Leibner, Alexander, Lurz, Eberhard, Mayr, Johannes A., McKiernan, Patrick, Mention, Karine, Moog, Ute, Mungan, Neslihan Onenli, Riedhammer, Korbinian M.Aff2, Aff3, Aff30, Santer, René, Palafoll, Irene Valenzuela, Vockley, Jerry, Westphal, Dominik S.Aff2, Aff3, Wiedemann, Arnaud, Wortmann, Saskia B.Aff2, Aff3, Aff27, Diwan, Gaurav D.Aff33, Aff34, Russell, Robert B.Aff33, Aff34, Prokisch, HolgerAff2, Aff3, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Lenz, DominicAff1
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(3):610-621
-
10دورية أكاديمية
المؤلفون: Abu Bakar, Nurulamin, Voermans, Nicol C., Marquardt, Thorsten, Thiel, Christian, Janssen, Mirian C.H., Hansikova, Hana, Crushell, Ellen, Sykut-Cegielska, Jolanta, Bowling, Francis, MØrkrid, Lars, Vissing, John, Morava, Eva, van Scherpenzeel, Monique, Lefeber, Dirk J.
المصدر: In Translational Research September 2018 199:62-76