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Huseyin Demirbilek
Huseyin Demirbilek
在 hacettepe.edu.tr 的电子邮件经过验证
标题
引用次数
引用次数
年份
Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort
T Guran, F Buonocore, N Saka, MN Ozbek, Z Aycan, A Bereket, F Bas, ...
The Journal of Clinical Endocrinology & Metabolism 101 (1), 284-292, 2016
1822016
Congenital hyperinsulinism: diagnosis and treatment update
H Demirbilek, K Hussain
Journal of clinical research in pediatric endocrinology 9 (Suppl 2), 69, 2017
1752017
Hashimoto's thyroiditis in children and adolescents: a retrospective study on clinical, epidemiological and laboratory properties of the disease
H Demirbilek, N Kandemir, EN Gonc, A Ozon, A Alikasifoglu, N Yordam
Journal of Pediatric Endocrinology and Metabolism 20 (11), 1199-1206, 2007
1572007
The genetic and molecular mechanisms of congenital hyperinsulinism
S Galcheva, H Demirbilek, S Al-Khawaga, K Hussain
Frontiers in endocrinology 10, 111, 2019
1232019
Hyperinsulinaemic hypoglycaemia in children and adults
P Shah, SA Rahman, H Demirbilek, M Güemes, K Hussain
The Lancet Diabetes & Endocrinology 5 (9), 729-742, 2017
1122017
Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism
VB Arya, S Senniappan, H Demirbilek, S Alam, SE Flanagan, S Ellard, ...
PloS one 9 (5), e98054, 2014
1042014
Incidence of type 1 diabetes mellitus in Turkish children from the southeastern region of the country: a regional report
H Demirbilek, MN Özbek, RT Baran
Journal of clinical research in pediatric endocrinology 5 (2), 98, 2013
872013
Turner syndrome and associated problems in Turkish children: a multicenter study
E Yeşilkaya, A Bereket, F Darendeliler, F Baş, Ş Poyrazoğlu, BK Aydın, ...
Journal of Clinical Research in Pediatric Endocrinology 7 (1), 27, 2015
782015
GnRH stimulation test in precocious puberty: single sample is adequate for diagnosis and dose adjustment
N Kandemir, H Demirbilek, ZA Özön, N Gönç, A Alikaşifoğlu
Journal of Clinical Research in Pediatric Endocrinology 3 (1), 12, 2011
772011
Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations
H Demirbilek, VB Arya, MN Ozbek, JAL Houghton, RT Baran, M Akar, ...
European Journal of Endocrinology 172 (6), 697-705, 2015
712015
Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy
H Demirbilek, P Shah, VB Arya, L Hinchey, SE Flanagan, S Ellard, ...
The Journal of Clinical Endocrinology & Metabolism 99 (10), 3660-3667, 2014
672014
Assessment of thyroid function during the long course of Hashimoto's thyroiditis in children and adolescents
H Demirbilek, N Kandemir, EN Gonc, A Ozon, A Alikasifoglu
Clinical endocrinology 71 (3), 451-454, 2009
642009
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
Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report
H Demirbilek, Y Alanay, A Alikaşifoğlu, M Topçu, E Mornet, A Özön, ...
Journal of clinical research in pediatric endocrinology 4 (1), 34, 2012
482012
Persistent hyperinsulinaemic hypoglycaemia in infancy
P Shah, H Demirbilek, K Hussain
Seminars in Pediatric Surgery 23 (2), 76-82, 2014
442014
Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations
E Işık, B Haliloglu, J van Doorn, H Demirbilek, SA Scheltinga, M Losekoot, ...
European journal of endocrinology 176 (6), 657-667, 2017
372017
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism
F Gürbüz, LD Kotan, E Mengen, Z Şıklar, M Berberoğlu, S Dökmetaş, ...
Journal of clinical research in pediatric endocrinology 4 (3), 121, 2012
372012
Evaluation of intraocular pressure and retinal nerve fiber layer, retinal ganglion cell, central macular thickness, and choroidal thickness using optical coherence tomography …
RT Baran, SO Baran, NF Toraman, S Filiz, H Demirbilek
Nigerian journal of clinical practice 22 (4), 539-545, 2019
362019
Ion transporters, channelopathies, and glucose disorders
H Demirbilek, S Galcheva, D Vuralli, S Al-Khawaga, K Hussain
International journal of molecular sciences 20 (10), 2590, 2019
352019
Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology
H Demirbilek, SA Rahman, GG Buyukyilmaz, K Hussain
International journal of pediatric endocrinology 2017, 1-18, 2017
342017
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