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van der Ven, Amelie T., Hempel, Maja, Kruse, Claas, Blohm, Martin, Grolle, Benjamin, Kubisch, Christian
und Lessel, Davor
(2025)
Homozygous DBX1 Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation.
Neurology Genetics 11 (5).
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, Kozenko, Mariya, Kubisch, Christian
, Kuechler, Alma, Leal, Suzanne M., Leppälä, 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 und Lessel, Davor
(2025)
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
The American Journal of Human Genetics 112 (2), S. 394-413.
, Zeitler, Daniela M., Reijnders, Margot R. F., Kazantsev, Andriy, Hassani Nia, Fatemeh, Bartholomäus, Alexander, Martens, Victoria, Bruckmann, Astrid, Graus, Veronika, McConkie-Rosell, Allyn, McDonald, Marie, Lozic, Bernarda, Tan, Ee-Shien, Gerkes, Erica, Johannsen, Jessika, Denecke, Jonas, Telegrafi, Aida, Zonneveld-Huijssoon, Evelien, Lemmink, Henny H., Cham, Breana W. M., Kovacevic, Tanja, Ramsdell, Linda, Foss, Kimberly, Le Duc, Diana, Mitter, Diana, Syrbe, Steffen, Merkenschlager, Andreas, Sinnema, Margje, Panis, Bianca, Lazier, Joanna, Osmond, Matthew, Hartley, Taila, Mortreux, Jeremie, Busa, Tiffany, Missirian, Chantal, Prasun, Pankaj, Lüttgen, Sabine, Mannucci, Ilaria, Lessel, Ivana
, Schob, Claudia, Kindler, Stefan, Pappas, John
, Rabin, Rachel, Willemsen, Marjolein, Gardeitchik, Thatjana, Löhner, Katharina, Rump, Patrick, Dias, Kerith-Rae, Evans, Carey-Anne, Andrews, Peter Ian, Roscioli, Tony, Brunner, Han G., Chijiwa, Chieko, Lewis, M. E. Suzanne
, Jamra, Rami Abou, Dyment, David A., Boycott, Kym M., Stegmann, Alexander P. A., Kubisch, Christian, Tan, Ene-Choo, Mirzaa, Ghayda M., McWalter, Kirsty, Kleefstra, Tjitske, Pfundt, Rolph, Ignatova, Zoya, Meister, Gunter und Kreienkamp, Hans-Jürgen
(2020)
Germline AGO2 mutations impair RNA interference and human neurological development.
Nature Communications 11 (1).
Volltext nicht vorhanden.
, Nader, Sean, Shah, Hitesh, Wickert, Julia und Kutsche, Kerstin
(2016)
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
BMC Medical Genetics 17 (1).
Volltext nicht vorhanden.
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