Number of items: 2.
2020
Khan, Mubeen,
Cornelis, Stéphanie S.,
Pozo-Valero, Marta Del,
Whelan, Laura,
Runhart, Esmee H.,
Mishra, Ketan ,
Bults, Femke,
AlSwaiti, Yahya,
AlTalbishi, Alaa,
De Baere, Elfride,
Banfi, Sandro,
Banin, Eyal,
Bauwens, Miriam,
Ben-Yosef, Tamar,
Boon, Camiel J. F.,
van den Born, L. Ingeborgh,
Defoort, Sabine,
Devos, Aurore,
Dockery, Adrian ,
Dudakova, Lubica ,
Fakin, Ana,
Farrar, G. Jane,
Sallum, Juliana Maria Ferraz,
Fujinami, Kaoru,
Gilissen, Christian ,
Glavač, Damjan,
Gorin, Michael B.,
Greenberg, Jacquie,
Hayashi, Takaaki,
Hettinga, Ymkje M.,
Hoischen, Alexander ,
Hoyng, Carel B.,
Hufendiek, Karsten,
Jägle, Herbert,
Kamakari, Smaragda,
Karali, Marianthi,
Kellner, Ulrich,
Klaver, Caroline C. W.,
Kousal, Bohdan ,
Lamey, Tina M.,
MacDonald, Ian M.,
Matynia, Anna,
McLaren, Terri L.,
Mena, Marcela D. ,
Meunier, Isabelle,
Miller, Rianne,
Newman, Hadas,
Ntozini, Buhle,
Oldak, Monika ,
Pieterse, Marc,
Podhajcer, Osvaldo L.,
Puech, Bernard,
Ramesar, Raj,
Rüther, Klaus,
Salameh, Manar,
Salles, Mariana Vallim,
Sharon, Dror,
Simonelli, Francesca,
Spital, Georg,
Steehouwer, Marloes,
Szaflik, Jacek P.,
Thompson, Jennifer A.,
Thuillier, Caroline,
Tracewska, Anna M. ,
van Zweeden, Martine,
Vincent, Andrea L.,
Zanlonghi, Xavier,
Liskova, Petra ,
Stöhr, Heidi,
Roach, John N. De,
Ayuso, Carmen,
Roberts, Lisa ,
Weber, Bernhard H. F.,
Dhaenens, Claire‐Marie and
Cremers, Frans P. M.
(2020)
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genetics in Medicine 22 (7), pp. 1235-1246.
Fulltext not available.
2019
Sangermano, Riccardo ,
Garanto, Alejandro ,
Khan, Mubeen,
Runhart, Esmee H.,
Bauwens, Miriam,
Bax, Nathalie M.,
van den Born, L. Ingeborgh,
Khan, Muhammad Imran,
Cornelis, Stéphanie S.,
Verheij, Joke B. G. M.,
Pott, Jan-Willem R.,
Thiadens, Alberta A. H. J.,
Klaver, Caroline C. W.,
Puech, Bernard,
Meunier, Isabelle,
Naessens, Sarah,
Arno, Gavin,
Fakin, Ana,
Carss, Keren J.,
Raymond, F. Lucy,
Webster, Andrew R.,
Dhaenens, Claire-Marie,
Stöhr, Heidi,
Grassmann, Felix ,
Weber, Bernhard H. F.,
Hoyng, Carel B.,
De Baere, Elfride,
Albert, Silvia ,
Collin, Rob W. J. and
Cremers, Frans P. M.
(2019)
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genetics in Medicine 21 (8), pp. 1751-1760.
Fulltext not available.
This list was generated on Fri Dec 6 05:34:45 2024 CET.