Kılıç M - Search Results

1

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.

Kılıç M, Özgül RK, Dursun A, Tokatlı A, Kalkanoğlu-Sivri HS, Anlar B, Fowler B, Coşkun T. Kılıç M, et al. Turk J Pediatr. 2013 Nov-Dec;55(6):633-6. Turk J Pediatr. 2013. PMID: 24577983

2

Effect of swimming on bone metabolism in adolescents.

Derman O, Cinemre A, Kanbur N, Doğan M, Kiliç M, Karaduman E. Derman O, et al. Among authors: kilic m. Turk J Pediatr. 2008 Mar-Apr;50(2):149-54. Turk J Pediatr. 2008. PMID: 18664079 Clinical Trial.

3

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.

Coşkun T, Aydin HI, Kiliç M, Dursun A, Haliloğlu G, Topaloğlu H, Karli-Oğuz K, de Koning TJ. Coşkun T, et al. Among authors: kilic m. Turk J Pediatr. 2009 Nov-Dec;51(6):587-92. Turk J Pediatr. 2009. PMID: 20196394

4

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

Kiliç M, Sivri HS, Dursun A, Tokatli A, De Meirleir L, Seneca S, Akçören Z, Yiğit S, Topaloğlu H, Coşkun T. Kiliç M, et al. Turk J Pediatr. 2011 Jan-Feb;53(1):79-82. Turk J Pediatr. 2011. PMID: 21534344

5

Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

Dursun A, Ozgül RK, Sivri S, Tokatlı A, Güzel A, Mesci L, Kılıç M, Aliefendioglu D, Ozçay F, Gündüz M, Coşkun T. Dursun A, et al. Among authors: kilic m. JIMD Rep. 2011;1:17-21. doi: 10.1007/8904_2011_10. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430822 Free PMC article.

6

A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.

Kilic M, Taskesen M, Coskun T, Gürakan F, Tokatli A, Sivri HS, Dursun A, Schmitt S, Küry S. Kilic M, et al. JIMD Rep. 2012;2:25-8. doi: 10.1007/8904_2011_38. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430849 Free PMC article.

7

Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.

Kilic M, Ozgül RK, Coşkun T, Yücel D, Karaca M, Sivri HS, Tokatli A, Sahin M, Karagöz T, Dursun A. Kilic M, et al. JIMD Rep. 2012;3:17-23. doi: 10.1007/8904_2011_36. Epub 2011 Sep 22. JIMD Rep. 2012. PMID: 23430869 Free PMC article.

8

Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.

Kılıç M, Kaymaz N, Özgül RK. Kılıç M, et al. J Clin Res Pediatr Endocrinol. 2014;6(1):59-61. doi: 10.4274/Jcrpe.1181. J Clin Res Pediatr Endocrinol. 2014. PMID: 24637313 Free PMC article.

9

Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway.

Gönüldaş B, Yılmaz T, Sivri HS, Güçer KŞ, Kılınç K, Genç GA, Kılıç M, Coşkun T. Gönüldaş B, et al. Among authors: kilic m. Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):944-9. doi: 10.1016/j.ijporl.2014.03.021. Epub 2014 Mar 27. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24731921

10

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.

Ozgul RK, Karaca M, Kilic M, Kucuk O, Yucel-Yilmaz D, Unal O, Hismi B, Aliefendioglu D, Sivri S, Tokatli A, Coskun T, Dursun A. Ozgul RK, et al. Among authors: kilic m. Eur J Med Genet. 2014 Oct;57(10):596-601. doi: 10.1016/j.ejmg.2014.08.006. Epub 2014 Sep 8. Eur J Med Genet. 2014. PMID: 25220015

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