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Eda Utine

Showing results (21-30 of 155) with videos related to

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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.
The Turkish Journal of Pediatrics|September 9, 2008
Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritanceG Eda Utine, Yasemin Alanay, Dilek Aktaş, et al.
Clinical Dysmorphology|March 14, 2007
Cerebro-facio-thoracic dysplasia: expanding the phenotypeDeirdre Cilliers, Yasemin Alanay, Koray Boduroglu, et al.
Molecular Syndromology|June 6, 2024
A Long-Term Follow-Up of a Patient with a Novel <i>PORCN</i> Variant and Additional Clinical FeaturesAkçahan Akalın, Karl-Heinz Grzeschik, Eda Utine, et al.
Molecular Syndromology|August 12, 2024
A Novel <i>ZBTB20</i> Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive FeaturesMerve Soğukpınar, Beren Karaosmanoğlu, Gülen Eda Utine, et al.
Neurogenetics|January 14, 2026
Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorderSerap Ketenci-İşlek, Gizem Ürel-Demir, Gülen Eda Utine, 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.
Molecular Syndromology|December 13, 2021
Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric PatientsAkçahan Akalın, İlker Ertuğrul, Pelin Özlem Şimşek-Kiper, et al.
Clinical Dysmorphology|October 12, 2014
Partial distal aphalangia, duplication of metatarsal IV, microcephaly, and borderline intelligence: a fourth patient with parental consanguinity and additional feature of massive cerebral thrombosisYasemin Ozsurekci, Ayca Komurluoglu, Selin Aytac, et al.
Journal of Clinical Immunology|July 5, 2020
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe OsteomyelitisNeslihan Akdogan, Erdem Kindis, Ecem Bostan, et al.
Pageof 16

Showing results (21-30 of 155) with videos related to

Sort By:
Pageof 16
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.
The Turkish Journal of Pediatrics|September 9, 2008
Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritanceG Eda Utine, Yasemin Alanay, Dilek Aktaş, et al.
Clinical Dysmorphology|March 14, 2007
Cerebro-facio-thoracic dysplasia: expanding the phenotypeDeirdre Cilliers, Yasemin Alanay, Koray Boduroglu, et al.
Molecular Syndromology|June 6, 2024
A Long-Term Follow-Up of a Patient with a Novel <i>PORCN</i> Variant and Additional Clinical FeaturesAkçahan Akalın, Karl-Heinz Grzeschik, Eda Utine, et al.
Molecular Syndromology|August 12, 2024
A Novel <i>ZBTB20</i> Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive FeaturesMerve Soğukpınar, Beren Karaosmanoğlu, Gülen Eda Utine, et al.
Neurogenetics|January 14, 2026
Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorderSerap Ketenci-İşlek, Gizem Ürel-Demir, Gülen Eda Utine, 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.
Molecular Syndromology|December 13, 2021
Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric PatientsAkçahan Akalın, İlker Ertuğrul, Pelin Özlem Şimşek-Kiper, et al.
Clinical Dysmorphology|October 12, 2014
Partial distal aphalangia, duplication of metatarsal IV, microcephaly, and borderline intelligence: a fourth patient with parental consanguinity and additional feature of massive cerebral thrombosisYasemin Ozsurekci, Ayca Komurluoglu, Selin Aytac, et al.
Journal of Clinical Immunology|July 5, 2020
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe OsteomyelitisNeslihan Akdogan, Erdem Kindis, Ecem Bostan, et al.
Pageof 16