Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Oğuz Acar"'
Autor:
Sadiye Ekinci, Yasemin Ülger, Mustafa Oğuz Acar, Ayşegül Ceran, Zehra Aycan, Ömer Suat Fitoz, Hatice Ilgın Ruhi
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:1097-1101
Objectives Hypochondroplasia (HCH) is characterized by disproportionate short stature and regarded as a milder form of achondroplasia (ACH), which is another skeletal dysplasia, both caused by variants in fibroblast growth factor receptor 3 (FGFR3) g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fb6181644a46af513a3926ab741cb31
https://doi.org/10.1515/jpem-2021-0773
https://doi.org/10.1515/jpem-2021-0773
Autor:
Ezgi Gökpınar İli, Elifcan Taşdelen, Ceren Damla Durmaz, Şule Altıner, Timur Tuncalı, Victor Martinez‐Glez, Halil Gürhan Karabulut, Seçil Vural, Serdar Ceylaner, Mustafa Oğuz Acar, Hatice Ilgın Ruhi
Publikováno v:
American Journal of Medical Genetics Part A. 188:1792-1800
Somatic and germline PI3K-AKT-mTOR pathway pathogenic variants are involved in several segmental overgrowth phenotypes such as the PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, and PTEN hamartoma tumor syndrome. In this study, we descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bb9b54cafb9f1567c4af86bd2e20368
https://doi.org/10.1002/ajmg.a.62709
https://doi.org/10.1002/ajmg.a.62709
Publikováno v:
European Medical Journal Urology, Vol 3, Iss 3, Pp 67-72 (2015)
Introduction: We present our experience with retrograde intrarenal surgery (RIRS) in patients with calculi in congenital anomalies of the upper urinary tract. Methods: A total of 29 patients with urinary stones and congenital anomalies of the kidney
Externí odkaz:
https://doaj.org/article/d76ad854ad7c417eaeb06147a5f4580f