Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Pelin Özlem Simşek Kiper"'
Autor:
Tuğba Daşar, Sandra Donkervoort, Pelin Özlem Şimşek Kiper, Rahşan Göçmen, Gülen Eda Utine, Koray Boduroğlu, Carsten Bonnemann, Göknur Haliloğlu
Publikováno v:
Journal of Pediatric Research, Vol 9, Iss 3, Pp 297-301 (2022)
Ehlers Danlos syndrome musculocontractural type (mcEDS) is a rare hereditary connective tissue disorder caused by biallelic pathogenic variants in the CHST14 or dermatan sulfate (DS) epimerase genes resulting in defective DS biosynthesis. It is chara
Externí odkaz:
https://doaj.org/article/b1c968dd33114e93b6ec83486f24e60d
Autor:
Halime Nayır Büyükşahin, Nagehan Emiralioglu, Pelin Özlem Simşek Kiper, Birce Sunman, Ismail Güzelkaş, Didem Alboğa, Meltem Akgül Erdal, Koray Boduroglu, Gülen Eda Utine, Ebru Yalcın, Deniz Doğru, Nural Kiper, Ugur Ozcelik
Publikováno v:
04.02 - Clinical and epidemiological respiratory sleep medicine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34ba3bb01f6ad51cf2debb37383b8085
https://doi.org/10.1183/13993003.congress-2022.526
https://doi.org/10.1183/13993003.congress-2022.526
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022)
Abstract Background Xeroderma pigmentosum is an extremely serious genetic disorder defined by sensitivity to sunlight, resulting in sunburn and pigment changes. If patients are not completely protected from ultraviolet radiation, xeroderma pigmentosu
Externí odkaz:
https://doaj.org/article/d29823bbd1554d43a9653e0cb1aaa6b5