Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Eda Utine

Showing results (121-130 of 155) with videos related to

Pageof 16
Sort By:
Pathology, Research and Practice|May 8, 2024
AP-1-dependent fibrosis: Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysisBeren Karaosmanoglu, Gozde Imren, Meral Uner, et al.
Journal of Medical Genetics|October 7, 2016
A novel <i>TRAPPC11</i> mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrimaKatrin Koehler, Miroslav P Milev, Keshika Prematilake, et al.
Journal of Human Genetics|June 10, 2018
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcificationGizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, et al.
American Journal of Medical Genetics. Part A|January 9, 2026
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1-Related Mitochondrial DiseaseNazli Busra Acikgoz, Gizem Urel Demir, Yilmaz Yildiz, et al.
Clinical Dysmorphology|February 13, 2023
Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literatureEngin Demir, Ceyda Tuna Kirsaçlioğlu, İnci Nur Saltik-Temizel, et al.
American Journal of Medical Genetics. Part A|November 7, 2013
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasiaYasemin Alanay, Bekir Ergüner, Eda Utine, et al.
Clinical Genetics|September 10, 2019
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment conceptsInsa Buers, Ivana Persico, Lara Schöning, et al.
Pediatric Pulmonology|March 3, 2020
Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in childrenDeniz Dogru, Sanem E Polat, Çağman Tan, et al.
American Journal of Medical Genetics. Part A|April 14, 2019
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndromePelin Ozlem Simsek-Kiper, Ekim Taskiran, Can Kosukcu, et al.
European Journal of Pediatrics|May 2, 2026
Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrumNazli Busra Acikgoz, Burcu Senkalfa, Berna Celik Ertas, et al.
Pageof 16

Showing results (121-130 of 155) with videos related to

Sort By:
Pageof 16
Pathology, Research and Practice|May 8, 2024
AP-1-dependent fibrosis: Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysisBeren Karaosmanoglu, Gozde Imren, Meral Uner, et al.
Journal of Medical Genetics|October 7, 2016
A novel <i>TRAPPC11</i> mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrimaKatrin Koehler, Miroslav P Milev, Keshika Prematilake, et al.
Journal of Human Genetics|June 10, 2018
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcificationGizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, et al.
American Journal of Medical Genetics. Part A|January 9, 2026
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1-Related Mitochondrial DiseaseNazli Busra Acikgoz, Gizem Urel Demir, Yilmaz Yildiz, et al.
Clinical Dysmorphology|February 13, 2023
Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literatureEngin Demir, Ceyda Tuna Kirsaçlioğlu, İnci Nur Saltik-Temizel, et al.
American Journal of Medical Genetics. Part A|November 7, 2013
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasiaYasemin Alanay, Bekir Ergüner, Eda Utine, et al.
Clinical Genetics|September 10, 2019
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment conceptsInsa Buers, Ivana Persico, Lara Schöning, et al.
Pediatric Pulmonology|March 3, 2020
Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in childrenDeniz Dogru, Sanem E Polat, Çağman Tan, et al.
American Journal of Medical Genetics. Part A|April 14, 2019
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndromePelin Ozlem Simsek-Kiper, Ekim Taskiran, Can Kosukcu, et al.
European Journal of Pediatrics|May 2, 2026
Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrumNazli Busra Acikgoz, Burcu Senkalfa, Berna Celik Ertas, et al.
Pageof 16