A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia
Şimşek‐Kiper, Pelin Özlem, Karaosmanoğlu, Beren, Taşkıran, Ekim Zihni, Türer, Özlem Boybeyi, Utine, Gülen Eda, Soyer, Tutku
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
Get full text
Journal Article
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features
Akalın, Akçahan, Şimşek‐Kiper, Pelin Özlem, Taşkıran, Ekim Z., Karaosmanoğlu, Beren, Utine, Gülen Eda, Boduroğlu, Koray
Published in American journal of medical genetics. Part A (01.04.2023)
Published in American journal of medical genetics. Part A (01.04.2023)
Get full text
Journal Article
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings
Soyer, Tutku, Karaosmanoglu, Beren, Taskiran, Ekim Z., Kiper, Pelin Özlem Şimşek, Karnak, İbrahim, Boduroğlu, Koray, Utine, Gülen Eda
Published in American journal of medical genetics. Part A (01.11.2021)
Published in American journal of medical genetics. Part A (01.11.2021)
Get full text
Journal Article
A mutation screen in patients with Kabuki syndrome
Li, Yun, Bögershausen, Nina, Alanay, Yasemin, Simsek Kiper, Pelin Özlem, Plume, Nadine, Keupp, Katharina, Pohl, Esther, Pawlik, Barbara, Rachwalski, Martin, Milz, Esther, Thoenes, Michaela, Albrecht, Beate, Prott, Eva-Christina, Lehmkühler, Margret, Demuth, Stephanie, Utine, Gülen Eda, Boduroglu, Koray, Frankenbusch, Katja, Borck, Guntram, Gillessen-Kaesbach, Gabriele, Yigit, Gökhan, Wieczorek, Dagmar, Wollnik, Bernd
Published in Human genetics (01.12.2011)
Published in Human genetics (01.12.2011)
Get full text
Journal Article
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
Get full text
Journal Article
Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks
Gültekin‐Zaim, Özge Berna, Yalçın‐Çakmaklı, Gül, Çolpak, Ayşe İlksen, Şimşek‐Kiper, Pelin Özlem, Utine, Gülen Eda, Elibol, Bülent
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2023)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2023)
Get full text
Journal Article
A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type
Dasar, Tugba, Donkervoort, Sandra, Kiper, Pelin Ozlem Simsek, Gocmen, Rahsan, Utine, Gulen Eda, Boduroglu, Koray, Bonnemann, Carsten, Haliloglu, Goknur
Published in The journal of pediatric research (01.09.2022)
Published in The journal of pediatric research (01.09.2022)
Get full text
Journal Article
Gorlin Syndrome in Eleven Patients
Utine, Gülen Eda, Alanay, Yasemin, Aktaş, Dilek, Boduroğlu, Koray, Alikaşifoğlu, Mehmet, Tunçbilek, Ergül
Published in The journal of pediatric research (01.06.2017)
Published in The journal of pediatric research (01.06.2017)
Get full text
Journal Article
A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings
Kılıç, Esra, Utine, Gülen Eda, Boduroğlu, Koray
Published in Turkish journal of pediatrics (01.03.2013)
Get full text
Published in Turkish journal of pediatrics (01.03.2013)
Journal Article
A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome
Doğan, Özlem Akgün, Şimşek Kiper, Pelin Özlem, Utine, Gülen Eda, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Published in Korean journal of family medicine (01.03.2017)
Published in Korean journal of family medicine (01.03.2017)
Get full text
Journal Article
The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics
Düzova, Ali, Akgül, Sinem, Utine, Gülen Eda, Yıldız, Yılmaz
Published in The Turkish journal of pediatrics (01.01.2023)
Published in The Turkish journal of pediatrics (01.01.2023)
Get full text
Journal Article
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
Akgün-Doğan, Özlem, Simsek-Kiper, Pelin Ozlem, Taşkıran, Ekim, Schossig, Anna, Utine, Gülen Eda, Zschocke, Johannes, Boduroglu, Koray
Published in Journal of child neurology (01.09.2021)
Published in Journal of child neurology (01.09.2021)
Get more information
Journal Article
Evaluation of polysomnography findings in children with genetic skeletal disorders
Nayır Büyükşahin, Halime, Emiralioglu, Nagehan, Simşek Kiper, Pelin Özlem, Sunman, Birce, Güzelkaş, Ismail, Alboğa, Didem, Akgül Erdal, Meltem, Boduroglu, Koray, Utine, Gülen Eda, Yalcın, Ebru, Doğru, Deniz, Kiper, Nural, Ozcelik, Ugur
Published in Journal of sleep research (01.10.2023)
Published in Journal of sleep research (01.10.2023)
Get full text
Journal Article