The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma

Authors: Abdulkerim Kolkıran, Beren Karaosmanoğlu, Zihni Ekim Taşkıran, Pelin Özlem Şimşek-Kiper, Gülen Eda Utine

Source: The Turkish Journal of Pediatrics, Vol 63, Iss 6 (2021)

Subject Terms: GNTPG gene, Genetic skeletal disorder, Mucolipidosis type 3 gamma (MLIIIγ), painful hip girdle, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://turkjpediatr.org/article/view/399; https://doaj.org/toc/0041-4301; https://doaj.org/toc/2791-6421

Access URL: https://doaj.org/article/32aba1b4a067409bb8ea9a607548fc62

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis

Authors: Serap Dökmeci-Emre, Zihni Ekim Taşkıran, Ayşe Yüzbaşıoğlu, Gizem Önal, Ayşe Nurten Akarsu, Ayşen Karaduman, Meral Özgüç

Source: The Turkish Journal of Pediatrics, Vol 59, Iss 4 (2017)

Subject Terms: PNPLA1, autosomal recessive congenital ichthyosis (ARCI), mutation, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://turkjpediatr.org/article/view/1018; https://doaj.org/toc/0041-4301; https://doaj.org/toc/2791-6421

Access URL: https://doaj.org/article/7cef93f76007490eba129dd67fa3871d

Phenotypic and Genetic Features that Differ Between Hereditary and Sporadic Melanoma: Results of a Preliminary Study from a Single Center from Turkey

Authors: Aysel Çakır, Gonca Elcin, Saadettin Kilickap, Özay Gököz, Zihni Ekim Taskiran, İsmail Celik

Source: Dermatology Practical & Conceptual, Vol 13, Iss 3 (2023)

Subject Terms: melanoma, hereditary melanoma, sporadic melanoma, cdkn2a, mc1r, Dermatology, RL1-803

File Description: electronic resource

Relation: http://dpcj.org/index.php/dpc/article/view/2904; https://doaj.org/toc/2160-9381

Access URL: https://doaj.org/article/12e7524699834a4a9cc893f1e58acbe4