Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Pediatrik Endokrinoloji ve Metabolizma"'
Autor:
DEMİRCİOĞLU, SERAP
RASopatiler, RAS/MAPK yolağının bileşenlerini kodlayan genlerdeki patojenik değişimler sonucu ortaya çıkan ve ortak klinik özellikleri olan bir hastalık grubunu tanımlar. Noonan sendromu (NS) en sık görülen ve en bilinen RASopati olmakl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3098::82e51f0fa8ea90d49fbf69095a0ccc78
https://hdl.handle.net/11424/283466
https://hdl.handle.net/11424/283466
Autor:
Esra Arslan Ates, Mehmet Eltan, Bahadir Sahin, Busra Gurpinar Tosun, Tuba Seven Menevse, Bilgen Bilge Geckinli, Andy Greenfield, Serap Turan, Abdullah Bereket, Tulay Guran
Background The human INHA gene encodes the inhibin subunit alpha protein, which is common to both inhibin A and B. The functional importance of inhibins in male sex development, sexual function, and reproduction remain largely unknown. Objective We r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71a73cd30156b0a2ab39c81fd219367f
https://hdl.handle.net/11424/287187
https://hdl.handle.net/11424/287187
Autor:
Devon Campbell, Monica Reyes, Sare Betul Kaygusuz, Saygın Abali, Tulay Guran, Abdullah Bereket, Masayo Kagami, Serap Turan, Harald Jüppner
Publikováno v:
Bone
Individuals affected by pseudohypoparathyroidism type 1A (PHP1A) display hyperphosphatemia and hypocalcemia despite elevated PTH levels, as well as features of Albright Hereditary Osteodystrophy (AHO). PHP1A is caused by variants involving the matern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65767f2b0a24cbe7b34af7025327dd95
https://doi.org/10.1016/j.bone.2022.116344
https://doi.org/10.1016/j.bone.2022.116344