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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders 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; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor Share Save
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia Soomann, Maarja; Bily, Viktor; Elgizouli, Magdeldin; Kraemer, Dennis; Akgul, Gulfirde; von Bernuth, Horst; Bloomfield, Marketa; Brodszki, Nicholas; Candotti, Fabio; Forster-Waldl, Elisabeth; Freiberger, Tomas; Gizewska, Maria; Klocperk, Adam; Koelsch, Uwe; Nichols, Kim E.; Krueger, Renate; Oak, Ninad; Pac, Malorzata; Prader, Seraina; Schmiegelow, Kjeld; Sediva, Anna; Sogkas, Georgios; Stittrich, Anna; Stoltze, Ulrik Kristoffer; Theodoropoulou, Katerina; Wadt, Karin; Wong, Melanie; Zeyda, Maximillian; Schmid, Jana Pachlopnik; Truck, Johannes Share Save
Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disorders Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B.; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortuem, 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 Share Save
No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder Hummel, Elisabeth; Elgizouli, Magdeldin; Sicorello, Maurizio; Leitao, Elsa; Beygo, Jasmin; Schroeder, Christopher; Zeschnigk, Michael; Mueller, Svenja; Herpertz, Stephan; Moser, Dirk; Kessler, Henrik; Horsthemke, Bernhard; Kumsta, Robert Share Save
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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome Meyer, Robert; Begemann, Matthias; Huebner, Christian Thomas; Dey, Daniela; Kuechler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaityte, Laima; Burnyte, Birute; Schroeder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas Share Save
THE ROLE OF ANTICOAGULATION THERAPY IN MANAGEMENT OF COVID-19 PATIENTS Shahid, S.; Elsharkawy, A.; Dethabrew, A.; Gani, A.; Elgizouli, M.; Islam, R.; Zahid, M. A.; Taylor, O.; Gupta, S.; Kashem, M.; Newman, O.; Kashem, M.; Kuckreja, S.; Naik, S.; Ekeowa, U.; Khan, K.; Anwar, M. S. Share Save
The adult phenotype of Schaaf-Yang syndrome Marbach, Felix; Elgizouli, Magdeldin; Rech, Megan; Beygo, Jasmin; Erger, Florian; Velmans, Clara; Stumpel, Constance T. R. M.; Stegmann, Alexander P. A.; Beck-Wodl, Stefanie; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Schaaf, Christian P.; Kuechler, Alma Share Save
Further evidence for POMK as candidate gene for WWS with meningoencephalocele Paul, Luisa; Rupprich, Katrin; Della Marina, Adela; Stein, Anja; Elgizouli, Magdeldin; Kaiser, Frank J.; Schweiger, Bernd; Koeninger, Angela; Iannaccone, Antonella; Hehr, Ute; Koelbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike; Kuechler, Alma Share Save
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Mycobacteria exploit nitric oxide-induced transformation of macrophages into permissive giant cells Gharun, Kourosh; Senges, Julia; Seidl, Maximilian; Loesslein, 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 Share Save
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Activating PI3K mutations in a cohort of 669 patients with primary immunodeficiency Elgizouli, M.; Lowe, D. M.; Speckmann, C.; Schubert, D.; Hulsdunker, J.; Eskandarian, Z.; Dudek, A.; Schmitt-Graeff, A.; Wanders, J.; Jorgensen, S. F.; Fevang, B.; Salzer, U.; Nieters, A.; Burns, S.; Grimbacher, B. Share Save
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Epstein Barr virus: a prime candidate of breast cancer aetiology in Sudanese patients Yahia, Zeinab A.; Adam, Ameera A. M.; Elgizouli, Magdeldin; Hussein, Ayman; Masri, Mai A.; Kamal, Mayada; Mohamed, Hiba S.; Alzaki, Kamal; Elhassan, Ahmed M.; Hamad, Kamal; Ibrahim, Muntaser E. Share Save
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