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Gulen Eda Utine

Showing results (11-20 of 39) with videos related to

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Molecular Syndromology|November 23, 2020
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in HypoglycemiaDogus Vuralli, Can Kosukcu, Ekim Taskiran, et al.
Differentiation; Research in Biological Diversity|July 13, 2026
A synonymous NPR2 variant causes acromesomelic dysplasia through aberrant pre-mRNA splicingNazli Busra Acikgoz, Hasan Basri Kılıç, Gizem Urel Demir, et al.
Molecular Syndromology|January 29, 2021
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from TurkeyHande Taylan Sekeroglu, Beren Karaosmanoglu, Ekim Z Taskiran, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndromeEsra Dikoglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observationPelin Ozlem Simsek-Kiper, Esra Dikoglu, Belinda Campos-Xavier, et al.
Fetal and Pediatric Pathology|July 16, 2019
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic TestingNaz Guleray, Can Kosukcu, Zihni Ekim Taskiran, et al.
Bone|August 10, 2014
Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's diseaseDorit Naot, Ally Choi, David Shaun Musson, et al.
American Journal of Medical Genetics. Part A|November 9, 2011
A newborn with overlapping features of AEC and EEC syndromesTolga Hasan Celik, Ayse Buyukcam, Pelin Ozlem Simsek-Kiper, et al.
Molecular Syndromology|October 30, 2025
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the LiteratureAkçahan Akalın, Nagihan Koç, Cansu Özşin-Özler, et al.
European Journal of Medical Genetics|April 29, 2018
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonatePelin Ozlem Simsek-Kiper, Can Kosukcu, Ozlem Akgun-Dogan, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
Molecular Syndromology|November 23, 2020
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in HypoglycemiaDogus Vuralli, Can Kosukcu, Ekim Taskiran, et al.
Differentiation; Research in Biological Diversity|July 13, 2026
A synonymous NPR2 variant causes acromesomelic dysplasia through aberrant pre-mRNA splicingNazli Busra Acikgoz, Hasan Basri Kılıç, Gizem Urel Demir, et al.
Molecular Syndromology|January 29, 2021
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from TurkeyHande Taylan Sekeroglu, Beren Karaosmanoglu, Ekim Z Taskiran, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndromeEsra Dikoglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observationPelin Ozlem Simsek-Kiper, Esra Dikoglu, Belinda Campos-Xavier, et al.
Fetal and Pediatric Pathology|July 16, 2019
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic TestingNaz Guleray, Can Kosukcu, Zihni Ekim Taskiran, et al.
Bone|August 10, 2014
Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's diseaseDorit Naot, Ally Choi, David Shaun Musson, et al.
American Journal of Medical Genetics. Part A|November 9, 2011
A newborn with overlapping features of AEC and EEC syndromesTolga Hasan Celik, Ayse Buyukcam, Pelin Ozlem Simsek-Kiper, et al.
Molecular Syndromology|October 30, 2025
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the LiteratureAkçahan Akalın, Nagihan Koç, Cansu Özşin-Özler, et al.
European Journal of Medical Genetics|April 29, 2018
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonatePelin Ozlem Simsek-Kiper, Can Kosukcu, Ozlem Akgun-Dogan, et al.
Pageof 4