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Gulen Eda Utine

Showing results (1-10 of 39) with videos related to

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American Journal of Medical Genetics. Part A|May 3, 2014
Barraquer-Simons syndrome: a rare clinical entityPelin Ozlem Simsek-Kiper, Emir Roach, Gulen Eda Utine, et al.
Pediatric Radiology|May 23, 2006
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndromeYasemin Alanay, Gulen Eda Utine, Ralph S Lachman, et al.
American Journal of Medical Genetics. Part A|May 10, 2022
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experienceAyca Burcu Kahraman, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
European Journal of Medical Genetics|November 30, 2018
Intrafamilial variability of XYLT2-related spondyloocular syndromeNaz Guleray, Pelin Ozlem Simsek Kiper, Gulen Eda Utine, et al.
Molecular Syndromology|December 24, 2025
<i>PIK3CA</i>-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case ReportNazli Busra Acikgoz, Damla Yildiz, Gizem Urel-Demir, et al.
Neuropediatrics|July 15, 2020
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 DeletionPelin Ozlem Simsek-Kiper, Sumeyra Oguz, Fatma Bilge Ergen, et al.
European Journal of Medical Genetics|June 2, 2019
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17Suleyman Nahit Sendur, Sumeyra Oguz, Gulen Eda Utine, et al.
Molecular Syndromology|February 15, 2024
Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert SyndromeCansu Kethuda Ensert Cihan, Halil Tuna Akar, Yılmaz Yıldız, et al.
Molecular Syndromology|October 13, 2025
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?Melisa Akgoz Koyuncuoglu, Hande Taylan Sekeroglu, Gizem Urel Demir, et al.
International Journal of Molecular Sciences|February 13, 2025
Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal DysplasiaGozde Imren, Beren Karaosmanoglu, Bihter Muratoglu, et al.
Pageof 4

Showing results (1-10 of 39) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|May 3, 2014
Barraquer-Simons syndrome: a rare clinical entityPelin Ozlem Simsek-Kiper, Emir Roach, Gulen Eda Utine, et al.
Pediatric Radiology|May 23, 2006
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndromeYasemin Alanay, Gulen Eda Utine, Ralph S Lachman, et al.
American Journal of Medical Genetics. Part A|May 10, 2022
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experienceAyca Burcu Kahraman, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
European Journal of Medical Genetics|November 30, 2018
Intrafamilial variability of XYLT2-related spondyloocular syndromeNaz Guleray, Pelin Ozlem Simsek Kiper, Gulen Eda Utine, et al.
Molecular Syndromology|December 24, 2025
<i>PIK3CA</i>-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case ReportNazli Busra Acikgoz, Damla Yildiz, Gizem Urel-Demir, et al.
Neuropediatrics|July 15, 2020
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 DeletionPelin Ozlem Simsek-Kiper, Sumeyra Oguz, Fatma Bilge Ergen, et al.
European Journal of Medical Genetics|June 2, 2019
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17Suleyman Nahit Sendur, Sumeyra Oguz, Gulen Eda Utine, et al.
Molecular Syndromology|February 15, 2024
Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert SyndromeCansu Kethuda Ensert Cihan, Halil Tuna Akar, Yılmaz Yıldız, et al.
Molecular Syndromology|October 13, 2025
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?Melisa Akgoz Koyuncuoglu, Hande Taylan Sekeroglu, Gizem Urel Demir, et al.
International Journal of Molecular Sciences|February 13, 2025
Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal DysplasiaGozde Imren, Beren Karaosmanoglu, Bihter Muratoglu, et al.
Pageof 4