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 | 173 | 2016 |
Congenital hyperinsulinism: diagnosis and treatment update H Demirbilek, K Hussain Journal of clinical research in pediatric endocrinology 9 (Suppl 2), 69, 2017 | 169 | 2017 |
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 | 153 | 2007 |
The genetic and molecular mechanisms of congenital hyperinsulinism S Galcheva, H Demirbilek, S Al-Khawaga, K Hussain Frontiers in endocrinology 10, 111, 2019 | 116 | 2019 |
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 | 108 | 2017 |
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 | 103 | 2014 |
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 | 85 | 2013 |
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 | 78 | 2015 |
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 | 76 | 2011 |
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 | 68 | 2015 |
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 | 65 | 2014 |
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 | 61 | 2009 |
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 | 55 | 2014 |
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 | 48 | 2012 |
Persistent hyperinsulinaemic hypoglycaemia in infancy P Shah, H Demirbilek, K Hussain Seminars in Pediatric Surgery 23 (2), 76-82, 2014 | 43 | 2014 |
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 | 37 | 2012 |
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 | 36 | 2017 |
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 | 35 | 2019 |
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 | 34 | 2019 |
Assessment of gonadotrophin suppression in girls treated with GnRH analogue for central precocious puberty; validity of single luteinizing hormone measurement after leuprolide … H Demirbilek, A Alikasifoglu, NE Gonc, A Ozon, N Kandemir Clinical endocrinology 76 (1), 126-130, 2012 | 34 | 2012 |