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Author/Creator Louzada, Sandra

1. A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan. (30th September 2019)

Authors:
Kim, Jihee; Lana, Beatrice; Torelli, Silvia; Ryan, David; Catapano, Francesco; Ala, Pierpaolo; Luft, Christin; Stevens, Elizabeth; Konstantinidis, Evangelos; Louzada, Sandra; Fu, Beiyuan; Paredes‐Redondo, Amaia; Chan, AW Edith; Yang, Fengtang; Stemple, Derek L; Liu, Pentao; Ketteler, Robin; Selwo...
Journal:
EMBO reports
Issue:
Volume 20:Number 11(2019)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Evolutionary and functional analysis of RBMY1 gene copy number variation on the human Y chromosome. (21st May 2019)

Authors:
Shi, Wentao; Louzada, Sandra; Grigorova, Marina; Massaia, Andrea; Arciero, Elena; Kibena, Laura; Ge, Xiangyu Jack; Chen, Yuan; Ayub, Qasim; Poolamets, Olev; Tyler-Smith, Chris; Punab, Margus; Laan, Maris; Yang, Fengtang; Hallast, Pille; Xue, Yali
Journal:
Human molecular genetics
Issue:
Volume 28:Number 16(2019)
Page Start:
2785
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗