Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Tuba Eminoglu"'
Autor:
Muhammet G Kutluk, Naz Kadem, Omer Bektas, Nadide C Randa, Gökcen O Tuncer, Pelin Albayrak, Tuba Eminoglu, Serap T Teber
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 4, Pp 547-551 (2021)
Objectives: Collagen-VI-related myopathies are caused by both dominant and recessive mutations in the three collagen-VI-related genes (COL6A1, COL6A2, and COL6A3) and present as two different major clinical entities; Bethlem myopathy and Ullrich cong
Externí odkaz:
https://doaj.org/article/8615e6f956ee4f19be87bcb3d1ffb15f
Autor:
M Gultekin Kutluk, Naz Kadem, Omer Bektas, Nadide Cemre Randa, Gökcen O Z Tuncer, Pelin Albayrak, Tuba Eminoglu, Serap Tiras Teber
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 2, Pp 280-282 (2021)
Externí odkaz:
https://doaj.org/article/8d171ea81d474ee1b49da4d9f1020518
Autor:
Engin Demir, Neslihan Doğulu, Ceyda Tuna Kırsaçlıoğlu, Vehap Topçu, Fatma Tuba Eminoglu, Zarife Kuloğlu, Aydan Kansu
Publikováno v:
Molecular Syndromology. 14:136-142
Introduction: Trichothiodystrophy type 4 and glutaric aciduria type 3 are rare autosomal recessive disorders caused by biallelic variants in the MPLKIP and SUGCT genes on chromosome 7p14, respectively. Trichothiodystrophy type 4 is characterized by n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9aceba7cd9c320b8be833a2e7f2abdb
https://doi.org/10.1159/000526393
https://doi.org/10.1159/000526393
Akademický článek
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Autor:
Ilknur Surucu Kara, Ummuhan Oncul, Engin Kose, Husnu Mutlu Turan, Ahmet Cevdet Ceylan, Fatma Tuba Eminoglu
Publikováno v:
Mol Syndromol
Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A. We present a male patient who was admitted to our center with clinical findings of hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1c52af91e12a108251a1de3e3cbb57d
https://doi.org/10.1159/000520502
https://doi.org/10.1159/000520502
Autor:
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Publikováno v:
Life; Volume 12; Issue 11; Pages: 1721
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5258f069f22ac0dff6b3f3ca01169341
https://hdl.handle.net/11424/283509
https://hdl.handle.net/11424/283509
Autor:
Özen Taş, Tugba Kontbay, Ozlem Dogan, Engin Kose, Merih Berberoglu, Zeynep Siklar, Leyla Tumer, Fatma Tuba Eminoglu
Background/Aim There have been no studies to date examining the effect of metformin treatment on vitamin B12 status in children and adolescents. In this prospective study, the effects of metformin on blood vitamin B12, serum methylmalonic acid (MMA),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00c806efd4e77db7b9eec40b7ea408c3
https://avesis.gazi.edu.tr/publication/details/da0cc501-cd13-46cb-bdda-9d096d911ac0/oai
https://avesis.gazi.edu.tr/publication/details/da0cc501-cd13-46cb-bdda-9d096d911ac0/oai
Autor:
Özen, Taş, Tugba, Kontbay, Ozlem, Dogan, Engin, Kose, Merih, Berberoglu, Zeynep, Siklar, Leyla, Tumer, Fatma Tuba, Eminoglu
Publikováno v:
Klinische Pädiatrie.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17df44b8b8da93974e3e3b7bf66ddbc1
https://doi.org/10.1055/a-1766-2824
https://doi.org/10.1055/a-1766-2824
Autor:
Neslihan Onenli Mungan, Mahmut Coker, Gonca Kilic Yildirim, Ozlem Unal Uzun, Melike Ersoy, Ayse Cigdem Aktuglu Zeybek, Seda Gunes, Nur Arslan, Leyla Tümer, Mustafa Kilic, Tuba Eminoglu, Mehmet Gunduz, Mehmet Keskin, Deniz Kor, Ebru Canda, Derya Bulut, Sema Kalkan Ucar
Publikováno v:
Molecular Genetics and Metabolism. 138:107252
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12c9a79ed6d53f6e0e6d1004817deb84
https://doi.org/10.1016/j.ymgme.2022.107252
https://doi.org/10.1016/j.ymgme.2022.107252
Autor:
Suleyman Aktuna, Duygu Duman, Fatma Tuba Eminoglu, MustafaTurker Duman, Emine Begum Gencer Oncul
Publikováno v:
Balkan medical journal. 39(2)
Mitochondrial diseases are a clinically heterogeneous group of rare hereditary disorders that are defined by a genetic defect predominantly affecting mitochondrial oxidative phosphorylation. Mitochondrial diseases are caused by mutations of genes enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57e7e64017d0b09e6808cb134a299b42
https://pubmed.ncbi.nlm.nih.gov/34928236
https://pubmed.ncbi.nlm.nih.gov/34928236