ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Bauwens, Miriam; Garanto, Alejandro; Sangermano, Riccardo; Naessens, Sarah; Weisschuh, Nicole; De Zaeytijd, Julie; Khan, Mubeen; Sadler, Francoise; Balikova, Irina; Van Cauwenbergh, Caroline; Rosseel, Toon; Bauwens, Jim; De Leeneer, Kim; De Jaegere, Sarah; Van Laethem, Thalia; De Vries, Meindert; Carss, Keren; Arno, Gavin; Fakin, Ana; Webster, Andrew R.; de l'Argentiere, Thomy J. L. de Ravel; Sznajer, Yves; Vuylsteke, Marnik; Kohl, Susanne; Wissinger, Bernd; Cherry, Timothy; Collin, Rob W. J.; Cremers, Frans P. M.; Leroy, Bart P.; De Baere, Elfride

dc.contributor.author	Weisschuh, Nicole
dc.contributor.author	Kohl, Susanne
dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Sadler, Françoise
dc.date.accessioned	2020-03-20T10:40:01Z
dc.date.available	2020-03-20T10:40:01Z
dc.date.issued	2019
dc.identifier.issn	1530-0366
dc.identifier.uri	http://hdl.handle.net/10900/99223
dc.language.iso	en	de_DE
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41436-018-0420-y	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190926111821_00404
utue.publikation.seiten	1761-1771	de_DE
utue.personen.roh	Bauwens, Miriam
utue.personen.roh	Garanto, Alejandro
utue.personen.roh	Sangermano, Riccardo
utue.personen.roh	Naessens, Sarah
utue.personen.roh	Weisschuh, Nicole
utue.personen.roh	De Zaeytijd, Julie
utue.personen.roh	Khan, Mubeen
utue.personen.roh	Sadler, Francoise
utue.personen.roh	Balikova, Irina
utue.personen.roh	Van Cauwenbergh, Caroline
utue.personen.roh	Rosseel, Toon
utue.personen.roh	Bauwens, Jim
utue.personen.roh	De Leeneer, Kim
utue.personen.roh	De Jaegere, Sarah
utue.personen.roh	Van Laethem, Thalia
utue.personen.roh	De Vries, Meindert
utue.personen.roh	Carss, Keren
utue.personen.roh	Arno, Gavin
utue.personen.roh	Fakin, Ana
utue.personen.roh	Webster, Andrew R.
utue.personen.roh	de l'Argentiere, Thomy J. L. de Ravel
utue.personen.roh	Sznajer, Yves
utue.personen.roh	Vuylsteke, Marnik
utue.personen.roh	Kohl, Susanne
utue.personen.roh	Wissinger, Bernd
utue.personen.roh	Cherry, Timothy
utue.personen.roh	Collin, Rob W. J.
utue.personen.roh	Cremers, Frans P. M.
utue.personen.roh	Leroy, Bart P.
utue.personen.roh	De Baere, Elfride
dcterms.isPartOf.ZSTitelID	Genetics in Medicine	de_DE
dcterms.isPartOf.ZS-Issue	8	de_DE
dcterms.isPartOf.ZS-Volume	21	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE