Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Ayça, Aykut"'
Autor:
Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Ayşe Yüksel Yanbolu, Ayça Aykut, Asude Durmaz, Ahmet Anık, Sema Kalkan Uçar, Mahmut Çoker
Publikováno v:
JCRPE, Vol 16, Iss 3, Pp 361-366 (2024)
Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter synthesis. Hypoglycemia caused by autonomic dysfunction is one of the symptoms that may be encounte
Externí odkaz:
https://doaj.org/article/875d27ca272e40338b799e3c40693f8d
Publikováno v:
JCRPE, Vol 16, Iss 1, Pp 76-83 (2024)
INTRODUCTION: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is t
Externí odkaz:
https://doaj.org/article/6bf50421226a4fad894e64571fd939a4
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 11, Iss 3, Pp 286-294 (2021)
Objective: This study aims to determine the effects of the mannose-binding lectin (MBL) gene polymorphism on the clinical and laboratory findings, response to treatment, and progress of patients with acute post-streptococcal glomerulonephritis (APSGN
Externí odkaz:
https://doaj.org/article/ae121d7c84f04e0e995437e6ebd94f76
Autor:
Asude Durmaz, Ayça Aykut, Tahir Atik, Samim Özen, Durdugül Ayyıldız Emecen, Aysun Ata, Esra Işık, Damla Gökşen, Özgür Çoğulu, Ferda Özkınay
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 52-60 (2021)
Objective:Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system. CPE knockout mice models exhibit disorders such as diabetes, hyperproinsulinaemia,
Externí odkaz:
https://doaj.org/article/e5c407a0c50a41838b29b02a448b966a
Autor:
Semra Gürsoy, Filiz Hazan, Ayça Aykut, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Korcan Demir, Behzat Özkan, Özgür Çoğulu
Publikováno v:
JCRPE, Vol 12, Iss 4, Pp 358-365 (2020)
Objective:SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic sh
Externí odkaz:
https://doaj.org/article/02289d179bc0403abd95c92f1caed883
Autor:
Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker, Ferda Özkınay
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100657- (2020)
Introduction: Pathogenic variants in SURF1, a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS). Material-methods: Sixteen patients diagnosed to have SURF1-relat
Externí odkaz:
https://doaj.org/article/85bb37d44ad64c5dbc162b48778f03b7
Autor:
Sezer Acar, Hale Tuhan, Korcan Demir, Ayça Aykut, Asude Durmaz, Ünal Utku Karaarslan, Gözde İnci, Oğuz Ateş, Ece Böber, Ayhan Abacı
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 48-51 (2018)
Pheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. The disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagn
Externí odkaz:
https://doaj.org/article/faa22e7242e443b8858f231214b7a228
Autor:
Emin Karaca, Ayça Aykut, Biray Ertürk, Burak Durmaz, Ahmet Güler, Barış Büke, Ahmet Özgür Yeniel, Ahmet Mete Ergenoğlu, Ferda Özkınay, Mehmet Özeren, Mert Kazandı, Fuat Akercan, Sermet Sağol, Cumhur Gündüz, Özgür Çoğulu
Publikováno v:
Balkan Medical Journal, Vol 35, Iss 2, Pp 163-166 (2018)
Background: Down syndrome, which is the most common human chromosomal anomaly that can affect people of any race and age, can be diagnosed prenatally in most cases. Prenatal diagnosis via culture method is time-consuming; thus, genetic analysis has t
Externí odkaz:
https://doaj.org/article/4456d579588345c4992475c753234e0f
Autor:
Aylin Yüksel Ülker, Dilek Uludağ Alkaya, Ahmet Okay Çağlayan, Esra Usluer, Ayça Aykut, Ayça Aslanger, Mehmet Vural, Beyhan Tüysüz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad0174ce25e0b9d47408a7ded67e7dca
https://avesis.deu.edu.tr/publication/details/079fd9bb-1a6d-44c8-8eb6-f38a6f9e25e1/oai
https://avesis.deu.edu.tr/publication/details/079fd9bb-1a6d-44c8-8eb6-f38a6f9e25e1/oai
