학술논문
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'학술논문'
에서 검색결과 143건 | 목록
1~20
Academic Journal
Acta Neurologica Belgica. 125(6):1733-1736
Academic Journal
Kubisch, Christian; Cogne, Benjamin; Rabin, Rachel; Kessler, Elena; Chappé, Céline; Brugger, Melanie; Jorge, Alexander A.L.; Short, John; Posey, Jennifer E.; Szakszon, Katalin; Bedeschi, Maria Francesca; Yuan, Bo; Brunet, Theresa; Chong, Hey J.; Poths, Karin; Josifova, Dragana; Maeding, Nicole; Sidlow, Richard; Nevay, Dayna-Lynn; Mehta, Lakshmi; Gangi, Silvana; Pappas, John; Cope, Heidi; Schrauwen, Isabelle; Hüning, Irina; Banka, Siddharth; Powell-Hamilton, Nina; Lyon, Gholson J.; Wieczorek, Dagmar; Leal, Suzanne M.; Courtin, Thomas; Fernandes, Erica; Harasink, Sue Moyer; Kamsteeg, Erik-Jan; Afenjar, Alexandra; Tan, Queenie K.G.; Marchi, Elaine; Brick, Lauren; Cardenas, Paul; Deb, Wallid; Wagner, Matias; Sullivan, Jennifer; Begtrup, Amber; Platzer, Konrad; Lessel, Davor; Oegema, Renske; Mancardi, Margherita; Kölbel, Heike; Haack, Tobias B.; Kuechler, Alma; Capra, Valeria; Fitzgerald, Kristi K.; Baresic, Anja; Chinn, Ivan K.; Rezende, Raissa C.; Odent, Sylvie; Kozenko, Mariya; Morel, Chantal F.; Network, Undiagnosed Diseases; Tolosa, Eva; Dubourg, Christèle; Sebastian, Jessica; Keren, Boris; Robert, Leema; Goenka, Anu; Lessel, Ivana; Jin, Jay J.; Gucsavas-Calikoglu, Muge; Chandler, Kate E.; Scala, Marcello; Rekab, Aisha; Madan-Khetarpal, Suneeta; Perilla-Young, Yezmin; Leppälä, Juha; de la Calle-Martín, Oscar; Conboy, Erin; Isidor, Bertrand; George-Abraham, Jaya K.; Järvelä, Irma; May, Jonathan; Dilena, Robertino; Averdunk, Luisa; Luu, Sharon M.; Hanker, Britta; Pastore, Matthew T.; Strunk, Dirk; Nigro, Vincenzo; Elgizouli, Magdeldin; Iascone, Maria; Menendez, Beatriz; Kalinauskiene, Ruta; Besnard, Thomas; Byrne, Susan; Romano, Ferruccio; Lupski, James R.; Brager, Rae; Hadonou, Medard
Am J Hum Genet
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C,Elgizouli , M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack, T B, Hadonou, M, Hanker, B, Hüning, I, Iascone, M, Isidor, B, Järvelä, I, Jin, J J, Jorge, A A L, Josifova, D, Kalinauskiene, R, Kamsteeg, E-J, Keren, B, Kessler, E, Kölbel, H & Banka, S 2025, 'DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders', American Journal of Human Genetics, vol. 112, no. 2, pp. 394-413. https://doi.org/10.1016/j.ajhg.2024.12.012
The American Journal of Human Genetics
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C,
The American Journal of Human Genetics
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
Academic Journal
Soomann, Maarja, MD; Bily, Viktor, MSc; Elgizouli, Magdeldin, MBBS, PhD; Kraemer, Dennis, MSc; Akgül, Gülfirde, PhD; von Bernuth, Horst, MD, PhD; Bloomfield, Markéta, MD, PhD; Brodszki, Nicholas, MD, PhD; Candotti, Fabio, MD; Förster-Waldl, Elisabeth, MD; Freiberger, Tomas, MD, PhD; Giżewska, Maria, MD, PhD; Klocperk, Adam, MD, PhD; Kölsch, Uwe, MD; Nichols, Kim E., MD; Krüger, Renate, MD; Oak, Ninad, PhD; Pac, Małgorzata, MD, PhD; Prader, Seraina, MD; Schmiegelow, Kjeld, MD; Šedivá, Anna, MD, PhD; Sogkas, Georgios, MD, PhD; Stittrich, Anna, PhD; Stoltze, Ulrik Kristoffer, MD, PhD; Theodoropoulou, Katerina, MD, PhD; Wadt, Karin, MD, PhD; Wong, Melanie, MBBS, PhD; Zeyda, Maximillian, PhD; Pachlopnik Schmid, Jana, MD, PhD; Trück, Johannes, MD, DPhil
The Journal of Allergy and Clinical Immunology. 154(5):1313-1324
Academic Journal
Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Oegema, Renske; Lessel, Davor; Undiagnosed Diseases Network
Academic Journal
Langhammer, Franziska ; Maroofian, Reza ; Badar, Rueda ; Gregor, Anne ; Rochman, Michelle ; Ratliff, Jeffrey B. ; Koopmans, Marije ; Herget, Theresia ; Hempel, Maja ; Kortüm, Fanny ; Heron, Delphine ; Mignot, Cyril ; Keren, Boris ; Brooks, Susan ; Botti, Christina ; Ben-Zeev, Bruria ; Argilli, Emanuela ; Sherr, Elliot H. ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Bakhtiari, Somayeh ; Kruer, Michael C. ; Salih, Mustafa A. ; Kuechler, Alma ; Muller, Eric A. ; Blocker, Karli ; Kuismin, Outi ; Park, Kristen L. ; Kochhar, Aaina ; Brown, Kathleen ; Ramanathan, Subhadra ; Clark, Robin D. ; Elgizouli, Magdeldin ; Melikishvili, Gia ; Tabatadze, Nazhi ; Stark, Zornitza ; Mirzaa, Ghayda M. ; Ong, Jinfon ; Grasshoff, Ute ; Bevot, Andrea ; von Wintzingerode, Lydia ; Jamra, Rami A. ; Hennig, Yvonne ; Goldenberg, Paula ; Al Alam, Chadi ; Charif, Majida ; Boulouiz, Redouane ; Bellaoui, Mohammed ; Amrani, Rim ; Al Mutairi, Fuad ; Tamim, Abdullah M. ; Abdulwahab, Firdous ; Alkuraya, Fowzan S. ; Khouj, Ebtissal M. ; Alvi, Javeria R. ; Sultan, Tipu ; Hashemi, Narges ; Karimiani, Ehsan G. ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Efthymiou, Stephanie ; Houlden, Henry ; Sticht, Heinrich ; Zweier, Christiane
In Genetics in Medicine August 2023 25(8)
Academic Journal
Elisabeth Hummel; Magdeldin Elgizouli; Maurizio Sicorello; Elsa Leitão; Jasmin Beygo; Christopher Schröder; Michael Zeschnigk; Svenja Müller; Stephan Herpertz; Dirk Moser; Henrik Kessler; Bernhard Horsthemke; Robert Kumsta
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Academic Journal
Kuzmanova, Boyana R.; Kuzmanova, Maria R.; Elgizouli, Magdeldin; Tatrai, Benjamin; Möller, J. Carsten
Academic Journal
Robert Meyer; Matthias Begemann; Christian Thomas Hübner; Daniela Dey; Alma Kuechler; Magdeldin Elgizouli; Ulrike Schara; Laima Ambrozaityte; Birute Burnyte; Carmen Schröder; Asmaa Kenawy; Peter Kroisel; Stephanie Demuth; Gyorgy Fekete; Thomas Opladen; Miriam Elbracht; Thomas Eggermann
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Academic Journal
Felix Marbach; Magdeldin Elgizouli; Megan Rech; Jasmin Beygo; Florian Erger; Clara Velmans; Constance T. R. M. Stumpel; Alexander P. A. Stegmann; Stefanie Beck-Wödl; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke; Christian P. Schaaf; Alma Kuechler
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Academic Journal
Luisa Paul; Katrin Rupprich; Adela Della Marina; Anja Stein; Magdeldin Elgizouli; Frank J. Kaiser; Bernd Schweiger; Angela Köninger; Antonella Iannaccone; Ute Hehr; Heike Kölbel; Andreas Roos; Ulrike Schara-Schmidt; Alma Kuechler
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Academic Journal
Łuczyńska, Anna; Logan, Chad; Nieters, Alexandra; Elgizouli, Magdeldin; Schöttker, Ben; Brenner, Hermann; Rothenbacher, Dietrich
European Journal of Epidemiology, 2014 Jan 01. 29(8), 585-594.
Academic Journal
Rizo, Carlos A.; Jadad, Alejandro R.; Enkin, Murray; Parmar, Malvinder S.; Sotelo, Julio; Rosenbaum, Gabriel S. Gorin; Wolpe, Paul Root; Mistry, Dipan N.; Elgizouli, Magdeldin A.; Rudolph, Robert I.; Wilson, Mark J.; Ward, Louise; James, Valerie; McMullin, Peter; Guthrie, Colin; Macleod, Malcolm R.; Tonks, Alison
BMJ: British Medical Journal, 2002 Sep . 325(7366), 711-715.
Academic Journal
Sophie Cabaset; Jean-Philippe Krieger; Aline Richard; Magdeldin Elgizouli; Alexandra Nieters; Sabine Rohrmann; Katharina C. Quack Lötscher
BMC Pregnancy and Childbirth, Vol 19, Iss 1, Pp 1-12 (2019)
Academic Journal
Academic Journal
Janda, Ales ; Schwarz, Klaus ; van der Burg, Mirjam ; Vach, Werner ; Ijspeert, Hanna ; Lorenz, Myriam Ricarda ; Elgizouli, Magdeldin ; Pieper, Kathrin ; Fisch, Paul ; Hagel, Joachim ; Lorenzetti, Raquel ; Seidl, Maximilian ; Roesler, Joachim ; Hauck, Fabian ; Traggiai, Elisabetta ; Speckmann, Carsten ; Rensing-Ehl, Anne ; Ehl, Stephan ; Eibel, Hermann ; Rizzi, Marta
In Blood 5 May 2016 127(18):2193-2202
Academic Journal
Livia Maccioni; Susanne Weber; Magdeldin Elgizouli; Anne-Sophie Stoehlker; Ilona Geist; Hans-Hartmut Peter; Werner Vach; Alexandra Nieters
BMC Public Health, Vol 18, Iss 1, Pp 1-13 (2018)
Academic Journal
Hysaj, Ola; Marqués-Gallego, Patricia; Richard, Aline; Elgizouli, Magdeldin; Nieters, Alexandra; Quack Lötscher, Katharina C.; Rohrmann, Sabine
Nutrients. January, 2021, Vol. 13 Issue 2
Academic Journal
Gharun, Kourosh; Senges, Julia; Seidl, Maximilian; Lösslein, Anne; Kolter, Julia; Lohrmann, Florens; Fliegauf, Manfred; Elgizouli, Magdeldin; Vavra, Martina; Schachtrup, Kristina; Illert, Anna L; Gilleron, Martine; Kirschning, Carsten J; Triantafyllopoulou, Antigoni; Henneke, Philipp
The EMBO Reports. 18(12):2144-2159
Academic Journal
Zeckanovic, Aida; Scheidegger, Nastassja; Prader, Seraina; Thanikkel, Leo; Elgizouli, Magdeldin; Bodmer, Nicole
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