Berk Ozyilmaz

Berk Ozyilmaz

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Berk Ozyilmaz

Berk Ozyilmaz

Publications by authors named "Berk Ozyilmaz"

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16Publications

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The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci.

J Pediatr Genet 2020 Mar 16;9(1):9-18. Epub 2019 Oct 16.

Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.

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http://dx.doi.org/10.1055/s-0039-1698420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976308PMC
March 2020

A case of spastic paraplegia-15 with a novel pathogenic variant in gene.

Int J Neurosci 2019 Dec 19;129(12):1198-1202. Epub 2019 Aug 19.

Genetic Diagnostic Center, Health Sciences University, Izmir Tepecik Training and Research Hospital , Izmir , Turkey.

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http://dx.doi.org/10.1080/00207454.2019.1653293DOI Listing
December 2019

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Turk Arch Otorhinolaryngol 2019 Sep 1;57(3):140-148. Epub 2019 Sep 1.

Genetic Diagnosis Center, University of Health Sciences, Tepecik Training and Research Hospital, İzmir, Turkey.

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http://dx.doi.org/10.5152/tao.2019.4320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6779105PMC
September 2019

Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes.

Int J Immunogenet 2019 Aug 28;46(4):232-240. Epub 2019 May 28.

Tepecik Training and Research Hospital, Pediatric Immunology, University of Health Sciences, Izmir, Turkey.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/iji.12431
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http://dx.doi.org/10.1111/iji.12431DOI Listing
August 2019

A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia.

Acta Neurol Belg 2019 Jun 25. Epub 2019 Jun 25.

Department of Pediatric Neurology, Faculty of Medicine, Tepecik Training and Investigation Hospital, İzmir Katip Celebi University, 1140/1 Street, No: 1 Yenisehir, Konak, 35170, Izmir, Turkey.

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http://dx.doi.org/10.1007/s13760-019-01178-4DOI Listing
June 2019

cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies.

J Breath Res 2019 05 1;13(3):036006. Epub 2019 May 1.

Department of Translational Oncology, Institute of Oncology, Dokuz Eylul University, Izmir, Turkey. Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey. Genetic Diagnosis Center, Izmir Tepecik Training and Research Hospital, Health Sciences University, Izmir, Turkey.

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http://dx.doi.org/10.1088/1752-7163/ab17ffDOI Listing
May 2019

Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability.

J Pediatr Genet 2019 Mar 14;8(1):1-9. Epub 2018 Dec 14.

Department of Medical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey.

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http://dx.doi.org/10.1055/s-0038-1676583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375720PMC
March 2019

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY).

J Pediatr Endocrinol Metab 2018 Dec;31(12):1295-1304

Health Sciences University Izmir Tepecik Training and Research Hospital, Genetic Diagnostic Center, Izmir, Turkey.

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0184DOI Listing
December 2018

Fetal HLA-G alleles and their effect on miscarriage.

Adv Clin Exp Med 2018 Sep;27(9):1233-1237

Allergy and Immunology Clinic, Dr. Suat Seren Chest Diseases and Surgery Training and Research Hospital, Health Sciences University, Izmir, Turkey.

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http://dx.doi.org/10.17219/acem/69692DOI Listing
September 2018

A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum.

J Pediatr Genet 2018 Jun 18;7(2):74-77. Epub 2017 Dec 18.

Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey.

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http://dx.doi.org/10.1055/s-0037-1612598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916805PMC
June 2018

QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey.

Turk J Med Sci 2017 Feb 27;47(1):142-147. Epub 2017 Feb 27.

Genetic Diagnostic Center, Tepecik Training and Research Hospital, İzmir, Turkey.

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http://dx.doi.org/10.3906/sag-1511-157DOI Listing
February 2017

De novo produced anti-human leukocyte antigen antibodies relation to alloimmunity in patients with chronic renal failure.

Genet Test Mol Biomarkers 2015 Jun 31;19(6):335-8. Epub 2015 Mar 31.

2 Tissue Typing Laboratory, Tepecik Training and Research Hospital , Izmir, Turkey .

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http://www.liebertpub.com/doi/10.1089/gtmb.2014.0294
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http://dx.doi.org/10.1089/gtmb.2014.0294DOI Listing
June 2015

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation.

J Clin Res Pediatr Endocrinol 2015 Jun;7(2):159-62

Tepecik Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey Phone: +90 232 469 69 69-3817 E-mail:

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http://dx.doi.org/10.4274/jcrpe.1919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563191PMC
June 2015