Ekim Zihni Taşkiran (Ekim Taskiran, Ekim Z Taşkıran, Ekim Zihni Taşkıran, Ekim Z Taskiran, E Z Taşkıran)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 19

Top Topics

Intellectual Disability

Autism Spectrum Disorder

Top Venues

American journal of medical genetics. Part A

Molecular biology reports

Turkish journal of biology = Turk biyoloji dergisi

Journal of intellectual disability research : JIDR

This page only lists publications with an associated author ORCID identifier.

Publications

Pelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkiran, Özlem Boybeyi Türer, Gülen Eda Utine, Tutku Soyer
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia. American journal of medical genetics. Part A (2024)
Pelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkiran, Özlem Boybeyi Türer, Gülen Eda Utine, Tutku Soyer
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia. American journal of medical genetics. Part A 194 (9) (2024)
Pelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkiran, Özlem Boybeyi Türer, Gülen Eda Utine, Tutku Soyer
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia. American journal of medical genetics. Part A 194 (9) (2024)
Pelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkiran, Özlem Boybeyi Türer, Gülen Eda Utine, Tutku Soyer
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia. American journal of medical genetics. Part A 194 (9) (2024)
Beren Karaosmanoğlu, Gozde Imren, M Samil Ozisin, Tuba Reçber, Pelin Ozlem Simsek Kiper, Goknur Haliloglu, Mehmet Alikaşifoğlu, Emirhan Nemutlu, Ekim Zihni Taşkiran, Gulen Eda Utine
Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion. Molecular biology reports 51 (1) (2024)
Akçahan Akalın, Pelin Özlem Şimsek Kiper, Ekim Zihni Taşkiran, Beren Karaosmanoğlu, Gülen Eda Utine, Koray Boduroglu
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features. American journal of medical genetics. Part A 191 (4) (2023)
Akçahan Akalın, Pelin Özlem Şimsek Kiper, Ekim Zihni Taşkiran, Beren Karaosmanoğlu, Gülen Eda Utine, Koray Boduroglu
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features. American journal of medical genetics. Part A 191 (4) (2023)
Akçahan Akalın, Pelin Özlem Şimsek Kiper, Ekim Zihni Taşkiran, Beren Karaosmanoğlu, Gülen Eda Utine, Koray Boduroglu
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features. American journal of medical genetics. Part A (2023)
Akçahan Akalın, Pelin Özlem Şimsek Kiper, Ekim Zihni Taşkiran, Beren Karaosmanoğlu, Gülen Eda Utine, Koray Boduroglu
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features. American journal of medical genetics. Part A 191 (4) (2023)
Merve Soğukpınar, Pelin Özlem Şimsek Kiper, Can Koşukcu, Ekim Zihni Taşkiran, Inci Nur Saltik Temizel, Kadri Safak Gucer, Gülen Eda Utine, Koray Boduroglu
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review. Pediatric gastroenterology, hepatology & nutrition 25 (6) (2022)
Erdem Kindis, Pelin Özlem Şimsek Kiper, Can Koşukcu, Ekim Zihni Taşkiran, Rahşan Gocmen, Gülen Eda Utine, Göknur Haliloğlu, Koray Boduroglu, Mehmet Alikaşifoğlu
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features. American journal of medical genetics. Part A 185 (6) (2021)
Tutku Soyer, Beren Karaosmanoğlu, Ekim Zihni Taşkiran, Pelin Özlem Şimşek Kiper, İbrahim Karnak, Koray Boduroğlu, Gülen Eda Utine
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings. American journal of medical genetics. Part A 185 (11) (2021)
Akçahan Akalın, Ekim Zihni Taşkiran, Pelin Özlem Şimşek-Kiper, Eda Utine, Yasemin Alanay, Uğur Özçelik, Koray Boduroğlu
Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature. American journal of medical genetics. Part A 185 (10) (2021)
Luise A Schuch, Maria Forstner, Christina K Rapp, Yang Li, Desiree E C Smith, Marisa I Mendes, Florent Delhommel, Michael Sattler, Nagehan Emiralioğlu, Ekim Zihni Taşkiran, Diclehan Orhan, Emine Nural Kiper, Meino Rohlfs, Tim Jeske, Maximilian Hastreiter, Michael Gerstlauer, Alba Torrent Vernetta, Antonio Moreno-Galdó, Birgit Kammer, Frank Brasch, Simone Reu-Hofer, Matthias Griese
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs! Clinical genetics 99 (6) (2021)
Ekim Zihni Taşkiran, Beren Karaosmanoğlu, C Koşukcu, G Ürel-Demir, Ö Akgün-Doğan, P Ö Şimşek-Kiper, M Alikaşifoğlu, K Boduroğlu, Gülen Eda Utine
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability. Journal of intellectual disability research : JIDR 65 (6) (2021)
Ekim Zihni Taşkiran, Beren Karaosmanoğlu
Transcriptome analysis reveals differentially expressed genes between human primary bone marrow mesenchymal stem cells and human primary dermal fibroblasts. Turkish journal of biology = Turk biyoloji dergisi 43 (1) (2019)
Pelin Özlem Şimsek Kiper, Ekim Zihni Taşkiran, Can Kosukcu, Umut Ece Arslan, Valérie Cormier-Daire, Nazlı Gonc, Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir, Gulen Eda Utine, Yasemin Alanay, Mehmet Alikasifoglu, Koray Boduroglu
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. American journal of medical genetics. Part A 179 (7) (2019)
Pelin Özlem Şimsek Kiper, Ekim Zihni Taşkiran, Can Kosukcu, Gizem Urel-Demir, Ozlem Akgun-Dogan, Guney Yilmaz, Gulen E Utine, Gen Nishimura, Koray Boduroglu, Mehmet Alikasifoglu
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. American journal of medical genetics. Part A 176 (9) (2018)
Ekim Zihni Taşkiran, Beren Karaosmanoglu, Can Koşukcu, Özlem A Doğan, Hande Taylan-Şekeroğlu, Pelin Özlem Şimsek Kiper, Eda G Utine, Koray Boduroğlu, Mehmet Alikaşifoğlu
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. American journal of medical genetics. Part A 173 (12) (2017)