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Gizem Ürel Demir

Showing results (1-10 of 33) with videos related to

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The Tohoku Journal of Experimental Medicine|October 4, 2023
Clinical Evaluation of Pediatric Patients with Hereditary AngioedemaAyşe Kırmızıtaş Aydoğdu, Gizem Ürel Demir
European Journal of Medical Genetics|April 28, 2021
Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish familiesAbdulkerim Kolkiran, Gizem Ürel-Demir, Pelin Özlem Şimşek-Kiper, et al.
Scandinavian Journal of Gastroenterology|January 12, 2026
Genetic sucrase-isomaltase deficiency: epidemiology, clinical spectrum, and diagnostic challengeEngin Demir, Ali Tunç, Burak Başer, et al.
Molecular Syndromology|June 20, 2025
First Report of a Novel <i>ZNF462</i> Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional MalformationsSerap Ketenci-İşlek, Gizem Ürel-Demir, Gülen Eda Utine, et al.
Pediatric Research|March 25, 2026
Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markersGizem Ürel Demir, Adalet Elçin Yıldız, Yaman Muşdal, et al.
Journal of the National Medical Association|February 13, 2025
Non-Hodgkin lymphoma in Williams syndrome: A coincidence or an association?Merve Tanrısever Türk, Gizem Ürel Demir, Gülen Eda Utine, et al.
American Journal of Medical Genetics. Part A|December 2, 2024
From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated FamiliesTuğba Daşar, Gizem Ürel Demir, Gözde İmren, et al.
The Turkish Journal of Pediatrics|April 8, 2020
Peters Plus syndrome: a recognizable clinical entityGizem Ürel Demir, Naz Güleray Lafcı, Özlem Akgün Doğan, et al.
European Journal of Medical Genetics|May 9, 2019
Ophthalmo-acromelic syndrome in an infantGizem Ürel-Demir, Ekim Zihni Taşkıran, Özlem Akgün-Doğan, et al.
Molecular Syndromology|August 9, 2024
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with <i>GSX2</i> and <i>PCDH12</i> VariantsGizem Ürel-Demir, Burak Başer, Rahşan Göçmen, et al.
Pageof 4

Showing results (1-10 of 33) with videos related to

Sort By:
Pageof 4
The Tohoku Journal of Experimental Medicine|October 4, 2023
Clinical Evaluation of Pediatric Patients with Hereditary AngioedemaAyşe Kırmızıtaş Aydoğdu, Gizem Ürel Demir
European Journal of Medical Genetics|April 28, 2021
Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish familiesAbdulkerim Kolkiran, Gizem Ürel-Demir, Pelin Özlem Şimşek-Kiper, et al.
Scandinavian Journal of Gastroenterology|January 12, 2026
Genetic sucrase-isomaltase deficiency: epidemiology, clinical spectrum, and diagnostic challengeEngin Demir, Ali Tunç, Burak Başer, et al.
Molecular Syndromology|June 20, 2025
First Report of a Novel <i>ZNF462</i> Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional MalformationsSerap Ketenci-İşlek, Gizem Ürel-Demir, Gülen Eda Utine, et al.
Pediatric Research|March 25, 2026
Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markersGizem Ürel Demir, Adalet Elçin Yıldız, Yaman Muşdal, et al.
Journal of the National Medical Association|February 13, 2025
Non-Hodgkin lymphoma in Williams syndrome: A coincidence or an association?Merve Tanrısever Türk, Gizem Ürel Demir, Gülen Eda Utine, et al.
American Journal of Medical Genetics. Part A|December 2, 2024
From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated FamiliesTuğba Daşar, Gizem Ürel Demir, Gözde İmren, et al.
The Turkish Journal of Pediatrics|April 8, 2020
Peters Plus syndrome: a recognizable clinical entityGizem Ürel Demir, Naz Güleray Lafcı, Özlem Akgün Doğan, et al.
European Journal of Medical Genetics|May 9, 2019
Ophthalmo-acromelic syndrome in an infantGizem Ürel-Demir, Ekim Zihni Taşkıran, Özlem Akgün-Doğan, et al.
Molecular Syndromology|August 9, 2024
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with <i>GSX2</i> and <i>PCDH12</i> VariantsGizem Ürel-Demir, Burak Başer, Rahşan Göçmen, et al.
Pageof 4