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Date 2021 Author/Creator Taskiran, Ekim Z.

1. Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings. Issue 11 (17th August 2021)

Authors:
Soyer, Tutku; Karaosmanoglu, Beren; Taskiran, Ekim Z.; Kiper, Pelin Özlem Şimşek; Karnak, İbrahim; Boduroğlu, Koray; Utine, Gülen Eda
Other Names:
Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 11(2021)
Page Start:
3427
Record Type:
Journal Article
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2. FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!. Issue 6 (28th February 2021)

Authors:
Schuch, Luise A.; Forstner, Maria; Rapp, Christina K.; Li, Yang; Smith, Desiree E. C.; Mendes, Marisa I.; Delhommel, Florent; Sattler, Michael; Emiralioğlu, Nagehan; Taskiran, Ekim Z.; Orhan, Diclehan; Kiper, Nural; Rohlfs, Meino; Jeske, Tim; Hastreiter, Maximilian; Gerstlauer, Michael; Torrent‐V...
Journal:
Clinical genetics
Issue:
Volume 99:Issue 6(2021)
Page Start:
789
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗