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Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year.
Özalkak Ş, Demiral M, Ünal E, Taş FF, Onay H, Demirbilek H, Özbek MN. Özalkak Ş, et al. Among authors: ozbek mn. J Clin Res Pediatr Endocrinol. 2023 Aug 23;15(3):329-333. doi: 10.4274/jcrpe.galenos.2022.2022-1-25. Epub 2022 Jun 23. J Clin Res Pediatr Endocrinol. 2023. PMID: 35735786 Free PMC article.
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.
Gürbüz F, Kotan LD, Mengen E, Şıklar Z, Berberoğlu M, Dökmetaş S, Kılıçlı MF, Güven A, Kirel B, Saka N, Poyrazoğlu Ş, Cesur Y, Doğan M, Özen S, Özbek MN, Demirbilek H, Kekil MB, Temiz F, Önenli Mungan N, Yüksel B, Topaloğlu AK. Gürbüz F, et al. Among authors: ozbek mn. J Clin Res Pediatr Endocrinol. 2012 Sep;4(3):121-6. doi: 10.4274/jcrpe.725. Epub 2012 Jul 5. J Clin Res Pediatr Endocrinol. 2012. PMID: 22766261 Free PMC article.
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.
Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, Unal S, Tekkes S, Flanagan SE, Ellard S, Hussain K. Demirbilek H, et al. Among authors: ozbek mn. Eur J Endocrinol. 2014 Jun;170(6):885-92. doi: 10.1530/EJE-14-0045. Epub 2014 Mar 31. Eur J Endocrinol. 2014. PMID: 24686051
Prepubertal unilateral gynecomastia: report of 2 cases.
Demirbilek H, Bacak G, Baran RT, Avcı Y, Baran A, Keleş A, Özbek MN, Alanay Y, Hussain K. Demirbilek H, et al. Among authors: ozbek mn. J Clin Res Pediatr Endocrinol. 2014 Dec;6(4):250-3. doi: 10.4274/Jcrpe.1477. J Clin Res Pediatr Endocrinol. 2014. PMID: 25541897 Free PMC article.
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.
Demirbilek H, Arya VB, Ozbek MN, Houghton JA, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, Hattersley AT, Ellard S, Hussain K. Demirbilek H, et al. Among authors: ozbek mn. Eur J Endocrinol. 2015 Jun;172(6):697-705. doi: 10.1530/EJE-14-0852. Epub 2015 Mar 9. Eur J Endocrinol. 2015. PMID: 25755231 Free PMC article.
77 results