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Publications by Gizem Ürel Demir

Peters Plus Syndrome: A Recognizable Clinical Entity

Turkish Journal of Pediatrics
Child HealthPediatricsPerinatology
2020English

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Prenatal Detection of Peters Plus-Like Syndrome

Turk Jinekoloji ve Obstetrik Dernegi Dergisi
GynecologyObstetrics
2018English

Peters Plus Syndrome Mutations Disrupt a Noncanonical ER Quality-Control Mechanism

Current Biology
GeneticsMolecular BiologyBiochemistryBiological SciencesNeuroscienceAgricultural
2015English

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

American Journal of Human Genetics
Genetics
2006English

Postpartum Atypical Haemolytic Uremic Syndrome: A Rare Clinical Entity

International Journal of Reproduction, Contraception, Obstetrics and Gynecology
2019English

Middle Lobe Syndrome- A Rare but an Important Clinical Entity

International Journal of Research in Medical Sciences
2017English

Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

American Journal of Human Genetics
Genetics
2018English

Biallelic Deletions of the Waardenburg II Syndrome Gene, SOX10 , Cause a Recognizable Arthrogryposis Syndrome

American Journal of Medical Genetics, Part A
Genetics
2018English

Milk Curd Syndrome: A Forgotten Entity

Advanced Research in Gastroenterology & Hepatology
2017English

Urethral Leiomyoma: A Rare Clinical Entity

Case Reports in Surgery
2016English

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