Onay H - Search Results

1

Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

Bozaci AE, Er E, Yazici H, Canda E, Kalkan Uçar S, Güvenc Saka M, Eraslan C, Onay H, Habif S, Thöny B, Coker M. Bozaci AE, et al. Among authors: onay h. JIMD Rep. 2021 Feb 1;59(1):42-51. doi: 10.1002/jmd2.12199. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977029 Free PMC article.

2

Assessment of Toll-like receptor-4 gene polymorphism on pyelonephritis and renal scar.

Akil I, Ozkinay F, Onay H, Canda E, Gumuser G, Kavukcu S. Akil I, et al. Among authors: onay h. Int J Immunogenet. 2012 Aug;39(4):303-7. doi: 10.1111/j.1744-313X.2012.01090.x. Epub 2012 Feb 6. Int J Immunogenet. 2012. PMID: 22308961

3

Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.

Karaca E, Kalkan S, Onay H, Aykut A, Coker M, Ozkinay F. Karaca E, et al. Among authors: onay h. J Pediatr Endocrinol Metab. 2012;25(9-10):957-62. doi: 10.1515/jpem-2012-0155. J Pediatr Endocrinol Metab. 2012. PMID: 23426826

4

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.

Aykut A, Karaca E, Onay H, Ucar SK, Coker M, Cogulu O, Ozkinay F. Aykut A, et al. Among authors: onay h. Gene. 2013 Sep 10;526(2):484-6. doi: 10.1016/j.gene.2013.03.116. Epub 2013 Apr 22. Gene. 2013. PMID: 23618813

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: onay h. 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 novel mutation and in vivo confocal microscopic findings in Fabry disease.

Degirmenci C, Yilmaz SG, Onay H, Palamar M, Ucar SK, Kayikcioglu M, Coker M. Degirmenci C, et al. Among authors: onay h. Saudi J Ophthalmol. 2017 Jan-Mar;31(1):45-47. doi: 10.1016/j.sjopt.2016.12.005. Epub 2017 Jan 3. Saudi J Ophthalmol. 2017. PMID: 28337063 Free PMC article.

7

[Fabry disease: An overlooked diagnosis in adult cardiac patients].

Kayıkçıoğlu M, Şimşek E, Kalkan Uçar S, Bayraktaroğlu S, Onay H, Sözmen E, Çoker M. Kayıkçıoğlu M, et al. Among authors: onay h. Turk Kardiyol Dern Ars. 2017 Sep;45(6):549-555. doi: 10.5543/tkda.2017.68709. Turk Kardiyol Dern Ars. 2017. PMID: 28902648 Free article. Turkish.

8

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.

Canda E, Yazici H, Er E, Kose M, Basol G, Onay H, Ucar SK, Habif S, Ozkinay F, Coker M. Canda E, et al. Among authors: onay h. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):917-926. doi: 10.1515/jpem-2018-0148. J Pediatr Endocrinol Metab. 2018. PMID: 29995633 Free article. Clinical Trial.

9

Coexistence of Gaucher Disease and severe congenital neutropenia.

Kose MD, Canda E, Kağnıcı M, Uçar SK, Onay H, Yıldırım Sozmen E, Karapınar D, Özkınay F, Çoker M. Kose MD, et al. Among authors: onay h. Blood Cells Mol Dis. 2019 May;76:1-6. doi: 10.1016/j.bcmd.2018.07.001. Epub 2018 Aug 10. Blood Cells Mol Dis. 2019. PMID: 30473482

10

Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.

Isik E, Onay H, Atik T, Canda E, Cogulu O, Coker M, Ozkinay F. Isik E, et al. Among authors: onay h. Eur J Med Genet. 2019 Oct;62(10):103725. doi: 10.1016/j.ejmg.2019.103725. Epub 2019 Jul 15. Eur J Med Genet. 2019. PMID: 31319225

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