Anzahl der Einträge: 3.
2020
Khan, Mubeen,
Cornelis, Stéphanie S.,
Pozo-Valero, Marta Del,
Whelan, Laura,
Runhart, Esmee H.,
Mishra, Ketan ![ORCID 0000-0001-6175-6643](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-3423-2542](/images/orcid_16x16.gif)
,
Dudakova, Lubica ![ORCID 0000-0003-4718-8955](/images/orcid_16x16.gif)
,
Fakin, Ana,
Farrar, G. Jane,
Sallum, Juliana Maria Ferraz,
Fujinami, Kaoru,
Gilissen, Christian ![ORCID 0000-0003-1693-9699](/images/orcid_16x16.gif)
,
Glavač, Damjan,
Gorin, Michael B.,
Greenberg, Jacquie,
Hayashi, Takaaki,
Hettinga, Ymkje M.,
Hoischen, Alexander ![ORCID 0000-0002-8072-4476](/images/orcid_16x16.gif)
,
Hoyng, Carel B.,
Hufendiek, Karsten,
Jägle, Herbert,
Kamakari, Smaragda,
Karali, Marianthi,
Kellner, Ulrich,
Klaver, Caroline C. W.,
Kousal, Bohdan ![ORCID 0000-0003-2824-2266](/images/orcid_16x16.gif)
,
Lamey, Tina M.,
MacDonald, Ian M.,
Matynia, Anna,
McLaren, Terri L.,
Mena, Marcela D. ![ORCID 0000-0002-8734-9031](/images/orcid_16x16.gif)
,
Meunier, Isabelle,
Miller, Rianne,
Newman, Hadas,
Ntozini, Buhle,
Oldak, Monika ![ORCID 0000-0002-4216-9141](/images/orcid_16x16.gif)
,
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. ![ORCID 0000-0001-9690-4458](/images/orcid_16x16.gif)
,
van Zweeden, Martine,
Vincent, Andrea L.,
Zanlonghi, Xavier,
Liskova, Petra ![ORCID 0000-0001-7834-8486](/images/orcid_16x16.gif)
,
Stöhr, Heidi,
Roach, John N. De,
Ayuso, Carmen,
Roberts, Lisa ![ORCID 0000-0001-6766-0255](/images/orcid_16x16.gif)
,
Weber, Bernhard H. F.,
Dhaenens, Claire‐Marie und
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), S. 1235-1246.
Volltext nicht vorhanden.
2019
Khan, Mubeen,
Cornelis, Stéphanie S.,
Khan, Muhammad Imran,
Elmelik, Duaa,
Manders, Eline,
Bakker, Sem,
Derks, Ronny,
Neveling, Kornelia,
Vorst, Maartje,
Gilissen, Christian,
Meunier, Isabelle,
Defoort, Sabine,
Puech, Bernard,
Devos, Aurore,
Schulz, Heidi L.,
Stöhr, Heidi,
Grassmann, Felix ![ORCID 0000-0003-1390-7528](/images/orcid_16x16.gif)
,
Weber, Bernhard H. F.,
Dhaenens, Claire‐Marie und
Cremers, Frans P. M.
(2019)
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease.
Human Mutation 40 (10), S. 1749-1759.
Volltext nicht vorhanden.
Sangermano, Riccardo ![ORCID 0000-0001-8657-0810](/images/orcid_16x16.gif)
,
Garanto, Alejandro ![ORCID 0000-0001-5721-1560](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0003-1390-7528](/images/orcid_16x16.gif)
,
Weber, Bernhard H. F.,
Hoyng, Carel B.,
De Baere, Elfride,
Albert, Silvia ![ORCID 0000-0002-6921-0351](/images/orcid_16x16.gif)
,
Collin, Rob W. J. und
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), S. 1751-1760.
Volltext nicht vorhanden.
Diese Liste wurde erzeugt am Fri Aug 16 23:11:45 2024 CEST.