Pelin Özlem Şimsek Kiper (Pelin Ozlem Simsek-Kiper, Pelin Ozlem Simsek Kiper, Pelin O Simsek-Kiper, Pelin Özlem Şimşek-Kiper, Pelin Özlem Simşek Kiper, Pelin Özlem Simsek-Kiper, Pelin Ö Şimşek-Kiper)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 21

Top Topics

Intellectual Disability

Clostridium Difficile

Obstructive Sleep Apnea

Top Venues

American journal of medical genetics. Part A

Neuropediatrics

Movement disorders clinical practice

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

Publications

Sibel Öz Yıldız, Dilek Yalnizoglu, Pelin Özlem Şimsek Kiper, Rahşan Gocmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature. Neuropediatrics 55 (3) (2024)
Sibel Öz Yıldız, Dilek Yalnizoglu, Pelin Özlem Şimsek Kiper, Rahşan Gocmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature. Neuropediatrics (2024)
Sibel Öz Yıldız, Dilek Yalnizoglu, Pelin Özlem Şimsek Kiper, Rahşan Gocmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature. Neuropediatrics 55 (3) (2024)
Sibel Öz Yıldız, Dilek Yalnizoglu, Pelin Özlem Şimsek Kiper, Rahşan Gocmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature. Neuropediatrics 55 (3) (2024)
Akçahan Akalın, Ercan Ayaz, Merve Soğukpınar, Enise Avci Durmusalioglu, Gizem Ürel-Demir, Adalet Elcin Yildiz, Tahir Atik, Nursel H Elcioglu, Gülen Eda Utine, Pelin Özlem Şimsek Kiper
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2. American journal of medical genetics. Part A (2024)
Özge Berna Gültekin-Zaim, Gül Yalçın Çakmaklı, Ayşe İlksen Çolpak, Pelin Özlem Şimsek Kiper, Gülen Eda Utine, Bülent Elibol
Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks. Movement disorders clinical practice 10 (Suppl 3) (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 191 (4) (2023)
Halime Nayir Buyuksahin, Nagehan Emiralioğlu, Pelin Özlem Şimsek Kiper, Birce Sunman, Ismail Güzelkaş, Didem Alboğa, Meltem Akgül Erdal, Koray Boduroglu, Gülen Eda Utine, Ebru Elmas Yalcin, Deniz Dogru Ersoz, Emine Nural Kiper, Hayriye Uğur Özçelik
Evaluation of polysomnography findings in children with genetic skeletal disorders. Journal of sleep research (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)
Pelin Özlem Şimsek Kiper, Prince Jacob, Priyanka Upadhyai, Zihni Ekim Taşkıran, Vishal S Guleria, Beren Karaosmanoglu, Gozde Imren, Rahsan Gocmen, Gandham S Bhavani, Neethukrishna Kausthubham, Hitesh Shah, Gulen Eda Utine, Koray Boduroglu, Katta M Girisha
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. Human mutation (2022)
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)
Tibbe Dhooge, Tim Van Damme, Delfien Syx, Laura Muiño Mosquera, Sheela Nampoothiri, Anil Radhakrishnan, Pelin Özlem Şimsek Kiper, Gülen Eda Utine, Maryse Bonduelle, Isabelle Migeotte, Osama Essawi, Serdar Ceylaner, Adila Al Kindy, Brad Tinkle, Sofie Symoens, Fransiska Malfait
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. Human mutation 42 (6) (2021)
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)
Pelin Özlem Şimsek Kiper, Gizem Ürel-Demir, Ekim Z Taskiran, Umut Ece Arslan, Banu Nur, Ercan Mihci, Mithat Haliloglu, Yasemin Alanay, Gulen Eda Utine, Koray Boduroglu
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience. Journal of human genetics 66 (6) (2020)
Esra Isik, Duygu Arican, Tahir Atik, Joo Enn Ooi, Şükran Darcan, Samim Özen, Pelin Özlem Şimsek Kiper, Gülen Eda Utine, Ozgur Cogulu, Ferda Özkınay
A rare cause of syndromic short stature: 3M syndrome in three families. American journal of medical genetics. Part A 185 (2) (2020)
Özlem Akgün Doğan, Pelin Özlem Şimsek Kiper, Ekim Taskiran, Christina Lissewski, Julia Brinkmann, Denny Schanze, Rahşan Göçmen, Deniz Cagdas, Yelda Bilginer, Gülen E Utine, Martin Zenker, Seza Ozen, İlhan Tezcan, Mehmet Alikasifoglu, Koray Boduroğlu
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes. American journal of medical genetics. Part A 179 (12) (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)