Ozkinay F - Search Results

1

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

Atik T, Karakoyun M, Sukalo M, Zenker M, Ozkinay F, Aydoğdu S. Atik T, et al. Among authors: ozkinay f. Gene. 2015 Oct 1;570(1):153-5. doi: 10.1016/j.gene.2015.06.082. Epub 2015 Jul 3. Gene. 2015. PMID: 26149651

2

Celiac disease in children with Down syndrome: importance of follow-up and serologic screening.

Cogulu O, Ozkinay F, Gunduz C, Cankaya T, Aydogdu S, Ozgenc F, Kutukculer N, Ozkinay C. Cogulu O, et al. Among authors: ozkinay f, ozkinay c. Pediatr Int. 2003 Aug;45(4):395-9. doi: 10.1046/j.1442-200x.2003.01755.x. Pediatr Int. 2003. PMID: 12911473

3

A novel mutation in two families with pycnodysostosis.

Ozdemir TR, Atik T, Karaca E, Onay H, Ozkinay F, Cogulu O. Ozdemir TR, et al. Among authors: ozkinay f. Clin Dysmorphol. 2013 Jul;22(3):102-105. doi: 10.1097/MCD.0b013e3283619632. Clin Dysmorphol. 2013. PMID: 23689398 No abstract available.

4

A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.

Atik T, Dervisoglu H, Onay H, Ozkinay F, Cogulu O. Atik T, et al. Among authors: ozkinay f. J Trop Pediatr. 2014 Jun;60(3):257-9. doi: 10.1093/tropej/fmt109. Epub 2014 Jan 9. J Trop Pediatr. 2014. PMID: 24408148

5

Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.

Durmaz A, Atik T, Onay H, Canda EE, Uçar SK, Bademkıran F, Coker M, Coğulu Ö, Özkınay F. Durmaz A, et al. Among authors: ozkinay f. Metab Brain Dis. 2014 Sep;29(3):809-12. doi: 10.1007/s11011-014-9552-1. Epub 2014 May 1. Metab Brain Dis. 2014. PMID: 24788897

6

A new patient with LACHT syndrome (Mardini-Nyhan association).

Atik T, Torun HO, Cogulu O, Ozkinay F. Atik T, et al. Among authors: ozkinay f. Am J Med Genet A. 2015 Feb;167A(2):400-2. doi: 10.1002/ajmg.a.36832. Epub 2014 Dec 8. Am J Med Genet A. 2015. PMID: 25487726

7

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.

Atik T, Koparir A, Bademci G, Foster J 2nd, Altunoglu U, Mutlu GY, Bowdin S, Elcioglu N, Tayfun GA, Atik SS, Ozen M, Ozkinay F, Alanay Y, Kayserili H, Thiel S, Tekin M. Atik T, et al. Among authors: ozkinay f. Orphanet J Rare Dis. 2015 Sep 30;10:128. doi: 10.1186/s13023-015-0345-3. Orphanet J Rare Dis. 2015. PMID: 26419238 Free PMC article.

8

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

Ece Solmaz A, Onay H, Atik T, Aykut A, Cerrah Gunes M, Ozalp Yuregir O, Bas VN, Hazan F, Kirbiyik O, Ozkinay F. Ece Solmaz A, et al. Among authors: ozkinay f. Eur J Med Genet. 2015 Dec;58(12):689-94. doi: 10.1016/j.ejmg.2015.10.011. Epub 2015 Oct 27. Eur J Med Genet. 2015. PMID: 26518167

9

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F. Atik T, et al. Among authors: ozkinay f. PLoS One. 2015 Nov 11;10(11):e0142154. doi: 10.1371/journal.pone.0142154. eCollection 2015. PLoS One. 2015. PMID: 26561413 Free PMC article.

10

Mannose binding lectin codon 54 polymorphism and susceptibility to recurrent respiratory tract infections in children: A meta-analysis.

Atan O, Kucukcelebi A, Atik T, Ozkınay F. Atan O, et al. Among authors: ozkinay f. Int J Pediatr Otorhinolaryngol. 2016 Feb;81:41-5. doi: 10.1016/j.ijporl.2015.11.029. Epub 2015 Dec 21. Int J Pediatr Otorhinolaryngol. 2016. PMID: 26810288

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