Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Gözde, Yeşil"'
Publikováno v:
Archives of Basic and Clinical Research, Vol 6, Iss 3, Pp 177-182 (2024)
Objective: The aim of our study is to evaluate whether there were any diffusion tensor imaging (DTI) parameter changes in the visual pathways in children with neuronal ceroid lipofuscinosis (NCL) for the early detection of visual pathway damage. M
Externí odkaz:
https://doaj.org/article/32b1ec922e254126ac77308ad096eb8a
Autor:
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affecte
Externí odkaz:
https://doaj.org/article/711cfaa4bbdd40c88cf90df5e876adc6
Publikováno v:
JCRPE, Vol 14, Iss 4, Pp 475-480 (2022)
Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imp
Externí odkaz:
https://doaj.org/article/6ee0abfd42034b1595eb07cb5439a834
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Burcu Sevinç Rüstemoğlu, Bedia Samanci, Fatih Tepgeç, Murat Kürtüncü, Umut Altunoglu, Tuncay Gündüz, Gözde Yeşil, Şahin Avcı, Hakan Gürvit, Başar Bilgiç, Güven Toksoy, Mefkure Eraksoy, Haşmet Hanağası, Zehra Oya Uyguner
Publikováno v:
Türk Nöroloji Dergisi, Vol 27, Iss 3, Pp 240-247 (2021)
Objective: Most lacunar strokes are sporadic, and hypertension, diabetes, smoking, and cardiovascular diseases are among its main risk factors. Strokes caused by small vessel diseases are generally associated with single-gene disorders with familial
Externí odkaz:
https://doaj.org/article/8cd9858aec234e20bf229b56e291625c
Publikováno v:
Archives of Basic & Clinical Research; Sep2024, Vol. 6 Issue 3, p177-182, 6p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Haseki Tıp Bülteni, Vol 57, Iss 3, Pp 328-331 (2019)
Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of
Externí odkaz:
https://doaj.org/article/4d3c0b425fb84c63977747a13172a812
Publikováno v:
Bezmiâlem Science, Vol 7, Iss 3, Pp 251-254 (2019)
Laron syndrome (LS) is a rare disorder leading to short stature as a result of growth hormone (GH) insensitivity. It is caused by mutations in GH receptor gene and characterized by post-natal growth retardation, craniofacial abnormalities, high serum
Externí odkaz:
https://doaj.org/article/4f80b95f623248b39a51e6715c9895e6
Publikováno v:
Bezmiâlem Science, Vol 7, Iss 2, Pp 170-173 (2019)
Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms and additional hormonal res
Externí odkaz:
https://doaj.org/article/716e71b8788e40be863ba7e4f75f80ae