关注
Prof. MD. Doga Turkkahraman
Prof. MD. Doga Turkkahraman
University of Health Sciences, Antalya Training and Research Hospital
在 sbu.edu.tr 的电子邮件经过验证
标题
引用次数
引用次数
年份
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families
O Rubio-Cabezas, AM Patch, JAL Minton, SE Flanagan, EL Edghill, ...
The Journal of Clinical Endocrinology & Metabolism 94 (11), 4162-4170, 2009
1672009
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy
D Turkkahraman, I Bircan, ND Tribble, S Akçurin, S Ellard, AL Gloyn
The Journal of pediatrics 153 (1), 122-126, 2008
642008
Prevalence and risk factors of obesity in school children in Antalya, Turkey.
D Turkkahraman, I Bircan, O Tosun, O Saka
adolescence 1, 2, 2006
632006
Successful granulocyte colony-stimulating factor treatment of relapsing Candida albicans meningoencephalitis caused by CARD9 deficiency
F Celmeli, N Oztoprak, D Turkkahraman, D Seyman, E Mutlu, N Frede, ...
The Pediatric infectious disease journal 35 (4), 428-431, 2016
592016
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
A Raimondo, AJ Chakera, SK Thomsen, K Colclough, A Barrett, ...
Human molecular genetics 23 (24), 6432-6440, 2014
582014
P300 auditory event‐related potentials in children with obesity: is childhood obesity related to impairment in cognitive functions?
ME Tascilar, D Turkkahraman, O Oz, M Yucel, M Taskesen, I Eker, ...
Pediatric Diabetes 12 (7), 589-595, 2011
542011
A family with a novel TSH receptor activating germline mutation (p. Ala485Val)
S Akcurin, D Turkkahraman, C Tysoe, S Ellard, A De Leener, G Vassart, ...
European journal of pediatrics 167, 1231-1237, 2008
382008
İnsüline bağımlı diabetes mellitus tanılı çocuk ve ergenlerde gözlenen ruhsal güçlükler
EÇ Fettahoğlu, C Koparan, E Özatalay, D Türkkahraman
Türkiye’de Psikiyatri 9 (1), 32-36, 2007
382007
Bone metabolism markers and bone mineral density in children with neurofibromatosis type-1
O Duman, S Ozdem, D Turkkahraman, ND Olgac, F Gungor, S Haspolat
Brain and Development 30 (9), 584-588, 2008
362008
CTLA-4 (+ 49A/G) polymorphism and type-1 diabetes in Turkish children
F Çelmeli, D Türkkahraman, D Özel, S Akçurin, O Yeğin
Journal of clinical research in pediatric endocrinology 5 (1), 40, 2013
342013
Novel mutations in obesity-related genes in Turkish children with non-syndromic early onset severe obesity: a multicentre study
A Akıncı, D Türkkahraman, İ Tekedereli, L Özer, B Evren, İ Şahin, T Kalkan, ...
Journal of clinical research in pediatric endocrinology 11 (4), 341, 2019
302019
A novel null mutation in P450 aromatase gene (CYP19A1) associated with development of hypoplastic ovaries in humans
S Akçurin, D Türkkahraman, WY Kim, E Durmaz, JG Shin, SJ Lee
Journal of Clinical Research in Pediatric Endocrinology 8 (2), 205, 2016
282016
AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus
D Turkkahraman, E Saglar, T Karaduman, H Mergen
Pituitary 18, 898-904, 2015
262015
Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency
D Turkkahraman, T Guran, H Ivison, A Griffin, R Vijzelaar, N Krone
Sexual Development 9 (2), 91-97, 2015
212015
Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model
F Gurbuz, S Desai, F Diao, D Turkkahraman, F Wranitz, ...
Clinical Genetics 93 (4), 853-859, 2018
192018
A novel DAX-1 mutation presented with precocious puberty and hypogonadotropic hypogonadism in different members of a large pedigree
E Durmaz, D Turkkahraman, A Berdeli, M Atan, G Karaguzel, S Akcurin, ...
Journal of Pediatric Endocrinology and Metabolism 26 (5-6), 551-555, 2013
192013
Final diagnosis in children with subclinical hypothyroidism and mutation analysis of the thyroid peroxidase gene (TPO)
D Turkkahraman, OM Alper, F Aydin, A Yildiz, S Pehlivanoglu, G Luleci, ...
Journal of Pediatric Endocrinology and Metabolism 22 (9), 845-852, 2009
152009
A successful unrelated peripheral blood stem cell transplantation with reduced intensity‐conditioning regimen in a patient with late‐onset purine nucleoside phosphorylase …
F Celmeli, D Turkkahraman, V Uygun, G la Marca, M Hershfield, ...
Pediatric Transplantation 19 (2), E47-E50, 2015
132015
Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene
E Mihci, D Turkkahraman, S Ellard, S Akçurin, İ Bircan
Journal of Clinical Research in Pediatric Endocrinology 4 (2), 2012
122012
Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation
D Turkkahraman, OM Alper, S Pehlivanoglu, F Aydin, A Yildiz, G Luleci, ...
Endocrine 37, 124-128, 2010
112010
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