Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 3-feb-2023 | Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis | Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Holtes, Lara K.; Bruijn, Suzanne E. de; Reurink, Janine; Boonen, Erica G. M.; Khan, Muhammad Imran; Ali, Manir; Andréasson, Sten; De Baere, Elfride; Banfi, Sandro; Bauwens, Miriam; Ben-Yosef, Tamar; Bocquet, Béatrice; De Bruyne, Marieke; Cerda, Berta de la CSIC ORCID; Coppieters, Frauke; Farinelli, Pietro; Guignard, Thomas; Inglehearn, Chris F.; Karali, Marianthi; Kjellström, Ulrika; Koenekoop, Robert; Koning, Bart de; Leroy, Bart P.; McKibbin, Martin; Meunier, Isabelle; Nikopoulos, Konstantinos; Nishiguchi, Koji M.; Poulter, James A.; Rivolta, Carlo; Rodríguez de la Rúa, Enrique; Saunders, Patrick; Simonelli, Francesca; Tatour, Yasmin; Testa, Francesco; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tracewska, Anna M.; Tran, Hoai Viet; Ushida, Hiroaki; Vaclavik, Veronika; Verhoeven, Virginie J. M.; Vorst, Maartje van de; Gilissen, Christian; Hoischen, Alexander; Cremers, Frans P. M.; Roosing, Susanne | artículo |
openAccess | | mar-2023 | Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores | Ishorst, Nina; Henschel, Leonie; Thieme, Frederic; Drichel, Dmitriy; Sivalingam, Sugirthan; Mehrem, Sarah L.; Fechtner, Ariane C.; Fazaal, Julia; Welzenbach, Julia; André Heimbach; Maj, Carlo; Hausen, Jonas; Raff, Ruth; Hoischen, Alexander; Dixon, Michael J.; Rada-Iglesias, Alvaro CSIC ORCID; Bartusel, Michaela; Rojas-Martinez, Augusto; Aldhorae, Khalid; Braumann, Bert; Kruse, Teresa; Kirschnech, Christian; Spanier, Gerrit; Reutter, Heiko; Nowak, Stefanie; Gölz, Lina; Knapp, Michael; Buness, Andreas; Krawitz, Peter; Nöthen, Markus M.; Nothnagel, Michael; Becker, Tim; Ludwig, Kerstin U.; Mangold, Elisabeth | artículo |
openAccess | | 2021 | Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology | Kargapolova, Yulia; Rehimi, Rizwan; Kayserili, Hülya; Brühl, Joanna; Sofiadis, Konstantinos; Zirkel, Anne; Palikyras, Spiros; Mizi, Athanasia; Li, Yun; Yigit, Gökhan; Hoischen, Alexander; Frank, Stefan; Russ, Nicole; Trautwein, Jonathan; Van Bon, Bregje; Gilissen, Christian; Laugsch, Magdalena; Gade Gusmao, Eduardo; Josipovic, Natasa; Altmüller, Janine; Nürnberg, Peter; Längst, Gernot; Kaiser, Frank J.; Watrin, Erwan; Brunner, Han; Rada-Iglesias, Alvaro CSIC ORCID; Kurian, Leo; Wollnik, Bernd; Bouazoune, Karim; Papantonis, Argyris | artículo |