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Author/Creator Utine, Gülen E.

1. ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes. Issue 12 (4th October 2019)

Authors:
Akgun‐Dogan, Ozlem; Simsek‐Kiper, Pelin O.; Taskiran, Ekim; Lissewski, Christina; Brinkmann, Julia; Schanze, Denny; Göçmen, Rahşan; Cagdas, Deniz; Bilginer, Yelda; Utine, Gülen E.; Zenker, Martin; Ozen, Seza; Tezcan, İlhan; Alikasifoglu, Mehmet; Boduroğlu, Koray
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 12(2019)
Page Start:
2474
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. Issue 6 (6th April 2021)

Authors:
Dhooge, Tibbe; Van Damme, Tim; Syx, Delfien; Mosquera, Laura M.; Nampoothiri, Sheela; Radhakrishnan, Anil; Simsek‐Kiper, Pelin O.; Utine, Gülen E.; Bonduelle, Maryse; Migeotte, Isabelle; Essawi, Osama; Ceylaner, Serdar; Al Kindy, Adila; Tinkle, Brad; Symoens, Sofie; Malfait, Fransiska
Journal:
Human mutation
Issue:
Volume 42:Issue 6(2021)
Page Start:
711
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗