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American Journal of Medical Genetics. Part A|December 2, 2024
From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated FamiliesTuğba Daşar, Gizem Ürel Demir, Gözde İmren, et al.
The Turkish Journal of Pediatrics|April 8, 2020
Peters Plus syndrome: a recognizable clinical entityGizem Ürel Demir, Naz Güleray Lafcı, Özlem Akgün Doğan, et al.
American Journal of Medical Genetics. Part A|April 22, 2024
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni herniaPelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkıran, et al.
The Turkish Journal of Pediatrics|April 11, 2019
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndromeBurçak Bilgin, Serkan Kabaçam, Ekim Taşkıran, et al.
The Turkish Journal of Pediatrics|November 24, 2017
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndromeHayriye Hızarcıoğlu-Gülşen, Esra Kılıç, Elena Dominguez-Garrido, et al.
The Turkish Journal of Pediatrics|March 14, 2022
A very rare case of a newborn with tetrasomy 9p and literature reviewMerve Süleyman, Sümeyra Oğuz, Gözdem Kaykı, et al.
Journal of Child Neurology|April 19, 2021
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical EntityÖzlem Akgün-Doğan, Pelin Ozlem Simsek-Kiper, Ekim Taşkıran, et al.
European Journal of Pediatrics|June 15, 2024
Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbiditiesMerve Soğukpınar, Gizem Ürel Demir, Gülen Eda Utine, et al.
Neuropediatrics|February 16, 2024
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the LiteratureSibel Öz Yıldız, Dilek Yalnızoğlu, Pelin Özlem Şimsek Kiper, et al.
American Journal of Medical Genetics. Part A|August 17, 2021
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblingsTutku Soyer, Beren Karaosmanoglu, Ekim Z Taskiran, et al.
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