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Author/Creator Budde, Birgit S.

1. Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. Issue 10 (25th July 2019)

Authors:
Preising, Markus N.; Görg, Boris; Friedburg, Christoph; Qvartskhava, Natalia; Budde, Birgit S.; Bonus, Michele; Toliat, Mohammad R.; Pfleger, Christopher; Altmüller, Janine; Herebian, Diran; Beyer, Mila; Zöllner, Helge J.; Wittsack, Hans-Jörg; Schaper, Jörg; Klee, Dirk; Zechner, Ulrich; Nürnberg,...
Journal:
FASEB journal
Issue:
Volume 33:Issue 10(2019)
Page Start:
11507
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Issue 1 (23rd April 2020)

Authors:
Budde, Birgit S.; Aly, Maha Abdelgaber; Mohamed, Mostafa R.; Breß, Andreas; Altmüller, Janine; Motameny, Susanne; Kawalia, Amit; Thiele, Holger; Konrad, Kathryn; Becker, Christian; Toliat, Mohammad R.; Nürnberg, Gudrun; Sayed, Eman Abdel Fattah; Mohamed, Enass Sayed; Pfister, Markus; Nürnberg, Peter
Journal:
Clinical genetics
Issue:
Volume 98:Issue 1(2020)
Page Start:
32
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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