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Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey Zucchi, Dina; Marinello, Diana; Tani, Chiara; Fulvio, Giovanni; Aguilera, Silvia; Benachi, Alexandra; Biller, Ruth; Blanco, Ignacio; Borgards, Petra; Boiteux, Marie-Claude; Brandi, Maria Luisa; Costafreda, Ester; Fonseca, Joao E.; Fredi, Micaela; Iotova, Violeta; Louisse, Simone; Nalli, Cecilia; Onali, Michela; Power, Beverley; Rousset-Jablonski, Christine; Sturz, Dominique; Tincani, Angela; Vieira, Ana; Capela, Susana; Dan, Dorica; De Backer, Julie; de Die-Smulders, Christine; Dufke, Andreas; Artzner, Estelle Lecointe; Limongelli, Giuseppe; Lorenz, Birgit; Papenthin, Wiebke; Pascau, Maria Jesus; Raidt, Johanna; Ray-Coquard, Isabelle; Rimmer, Rachel; Roehl, Claas; Schneider, Holm; Yap, Tet; Talarico, Rosaria; Mosca, Marta Share Save
Twelve-month Natural History Study of Centrosomal Protein 290 (CEP290)-associated Inherited Retinal Degeneration Pierce, Eric A.; Ashimatey, Bright S.; Jayasundera, Thiran; Hoyng, Carel; Lam, Byron L.; Lorenz, Birgit; Kim, Keunpyo; Rashid, Alia; Myers, Rene; Pennesi, Mark E. Share Save
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study Igelman, Austin D.; White, Elizabeth; Tayyib, Alaa; Everett, Lesley; Vincent, Ajoy; Heon, Elise; Zeitz, Christina; Michaelides, Michel; Mahroo, Omar A.; Katta, Mohamed; Webster, Andrew; Preising, Markus; Lorenz, Birgit; Khateb, Samer; Banin, Eyal; Sharon, Dror; Luski, Shahar; Van Den Broeck, Filip; Leroy, Bart Peter; De Baere, Elfride; Walraedt, Sophie; Stingl, Katarina; Kuehlewein, Laura; Kohl, Susanne; Reith, Milda; Fulton, Anne; Raghuram, Aparna; Meunier, Isabelle; Dollfus, Helene; Aleman, Tomas S.; Bedoukian, Emma C.; O'Neil, Erin C.; Krauss, Emily; Vincent, Andrea; Jordan, Charlotte; Iannaccone, Alessandro; Sen, Parveen; Sundaramurthy, Srilekha; Nagasamy, Soumittra; Balikova, Irina; Casteels, Ingele; Borooah, Shyamanga; Yassin, Shaden; Nagiel, Aaron; Schwartz, Hillary; Zanlonghi, Xavier; Gottlob, Irene; Mclean, Rebecca J.; Munier, Francis L.; Stephenson, Andrew; Sisk, Robert; Koenekoop, Robert; Wilson, Lorri B.; Fredrick, Douglas; Choi, Dongseok; Yang, Paul; Pennesi, Mark Edward Share Save
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Extraocular muscle ductions following nasal transposition of the split lateral rectus muscle Oke, Isdin; Lorenz, Birgit; Basiakos, Sotirios; Gokyigit, Birsen; Dodd, Mary-Magdalene Ugo; Laurent, Erick; Sadiq, Mohammad Ali; Goberville, Mitra; Elkamshoushy, Amr; Chong-Bin Tsai; Gravier, Nicholas; Speeg-Schatz, Claude; Shepherd, James Banks; Saxena, Rohit; Soni, Ajay; Hunter, David G.; Shah, Ankoor S.; Dagi, Linda R. Share Save
Comparability of input parameters in the German Retina.net ROP registry and the EU-ROP registry - An exemplary comparison between 2011 and 2021 Winter, K.; Pfeil, J. M.; Engmann, H.; Aisenbrey, S.; Lorenz, B.; Hufendiek, K.; Breuss, H.; Khattab, M.; Suesskind, D.; Kakkassery, V.; Lagreze, W. A.; Barth, T.; Liegl, R.; Bruender, M. C.; Skevas, C.; Goldammer, I.; Glitz, B.; Michalewicz, E.; Krohne, T. U.; Bartmann, I. R.; Stahl, A. Share Save
Nasal Transposition of the Split Lateral Rectus Muscle for Strabismus Associated With Bilateral 3rd-Nerve Palsy Oke, Isdin; Lorenz, Birgit; Basiakos, Sotirios; Gokyigit, Birsen; Dodd, Mary-Magdalene Ugo; Laurent, Erick; Hunter, David G.; Goberville, Mitra; Elkamshoushy, Amr; Tsai, Chong-bin; Orge, Faruk; Velez, Federico G.; Jeddawi, Laila; Gravier, Nicholas; Li, Ningdong; Shah, Ankoor S.; Dagi, Linda R. Share Save
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur, V; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias, I; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Helene; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Catala; Kellner, Ulrich; Ruther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne Share Save
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias, I; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne Share Save
Worldwide outcomes of nasal transposition of the split lateral rectus muscle for strabismus associated with 3rd-nerve palsy Shah, Ankoor S.; Dodd, Mary-Magdalene Ugo; Gokyigit, Birsen; Lorenz, Birgit; Laurent, Erick; Sadiq, Mohammad Ali Ayaz; Tsai, Chong-Bin; Gravier, Nicolas; Goberville, Mitra; Basiakos, Sotirios; Zurakowski, David; Dagi, Linda R. Share Save
International Classification of Retinopathy of Prematurity, Third Edition Chiang, Michael F.; Quinn, Graham E.; Fielder, Alistair R.; Ostmo, Susan R.; Chan, R. V. Paul; Berrocal, Audina; Binenbaum, Gil; Blair, Michael; Campbell, J. Peter; Capone, Antonio; Chen, Yi; Dai, Shuan; Ells, Anna; Fleck, Brian W.; Good, William V.; Hartnett, M. Elizabeth; Holmstrom, Gerd; Kusaka, Shunji; Kychenthal, Andres; Lepore, Domenico; Lorenz, Birgit; Martinez-Castellanos, Maria Ana; Ozdek, Sengul; Ademola-Popoola, Dupe; Reynolds, James D.; Shah, Parag K.; Shapiro, Michael; Stahl, Andreas; Toth, Cynthia; Vinekar, Anand; Visser, Linda; Wallace, David K.; Wu, Wei-Chi; Zhao, Peiquan; Zin, Andrea Share Save
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism Volk, Alexander E.; Hedergott, Andrea; Preising, Markus; Rading, Sebastian; Fricke, Julia; Herkenrath, Peter; Nurnberg, Peter; Altmueller, Janine; von Ameln, Simon; Lorenz, Birgit; Neugebauer, Antje; Karsak, Meliha; Kubisch, Christian Share Save
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Yokoyama procedure for esotropia associated with high myopia: real-world data from a large-scale multicentre analysis Wabbels, Bettina; Fricke, Julia; Schittkowski, Michael; Graf, Michael; Lorenz, Birgit; Bau, Viktoria; Nentwich, Martin M.; Atili, Abed; Eckstein, Anja; Sturm, Veit; Beisse, Christina; Sterker, Ina; Neppert, Birte; Mauschitz, Matthias M. Share Save
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction Williamson, Kathleen A.; Hall, H. Nikki; Owen, Liusaidh J.; Livesey, Benjamin J.; Hanson, Isabel M.; Adams, G. G. W.; Bodek, Simon; Calvas, Patrick; Castle, Bruce; Clarke, Michael; Deng, Alexander T.; Edery, Patrick; Fisher, Richard; Gillessen-Kaesbach, Gabriele; Heon, Elise; Hurst, Jane; Josifova, Dragana; Lorenz, Birgit; McKee, Shane; Meire, Francoise; Moore, Anthony T.; Parker, Michael; Reiff, Charlotte M.; Self, Jay; Tobias, Edward S.; Verheij, Joke B. G. M.; Willems, Marjolaine; Williams, Denise; van Heyningen, Veronica; Marsh, Joseph A.; FitzPatrick, David R. Share Save
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Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration Preising, Markus N.; Goerg, Boris; Friedburg, Christoph; Qvartskhava, Natalia; Budde, Birgit S.; Bonus, Michele; Toliat, Mohammad R.; Pfleger, Christopher; Altmueller, Janine; Herebian, Diran; Beyer, Mila; Zoellner, Helge J.; Wittsack, Hans-Joerg; Schaper, Joerg; Klee, Dirk; Zechner, Ulrich; Nuernberg, Peter; Schipper, Joerg; Schnitzler, Alfons; Gohlke, Holger; Lorenz, Birgit; Haeussinger, Dieter; Bolz, Hanno J. Share Save
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