Zafer Yuksel

Zafer Yuksel

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Zafer Yuksel

Zafer Yuksel

Publications by authors named "Zafer Yuksel"

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34Publications

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Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

Am J Med Genet A 2019 Aug 27;179(8):1603-1608. Epub 2019 May 27.

Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.61210DOI Listing
August 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

VEGF-A gene polymorphisms and responses to intravitreal ranibizumab treatment in patients with diabetic macular edema.

Int Ophthalmol 2018 Dec 13;38(6):2381-2388. Epub 2017 Oct 13.

Department of Ophthalmology, Dumlupinar University School of Medicine, 43270, Kutahya, Turkey.

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http://dx.doi.org/10.1007/s10792-017-0738-5DOI Listing
December 2018

Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation.

Neuromuscul Disord 2018 12 29;28(12):1006-1011. Epub 2018 Aug 29.

Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074 Aachen, Germany.

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http://dx.doi.org/10.1016/j.nmd.2018.08.009DOI Listing
December 2018

Three Single Nucleotide Polymorphisms of ' in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma.

Turk J Ophthalmol 2018 Oct 31;48(5):215-220. Epub 2018 Oct 31.

Eskisehir Osmangazi University Faculty of Medicine, Department of Biostatistics, Eskişehir, Turkey.

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http://dx.doi.org/10.4274/tjo.83797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216538PMC
October 2018

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.

J Hum Genet 2018 Sep 13;63(9):997-1001. Epub 2018 Jun 13.

Institute of Neurogenetics, University of Lübeck, 23538, Lübeck, Germany.

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http://dx.doi.org/10.1038/s10038-018-0469-0DOI Listing
September 2018

A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly.

Clin Dysmorphol 2018 07;27(3):109-111

Gaziantep Dr. Ersin Arslan Research and Education Hospital, Gaziantep.

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http://dx.doi.org/10.1097/MCD.0000000000000217DOI Listing
July 2018

A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

Clin Dysmorphol 2015 Apr;24(2):61-4

aIntergen Genetic Diseases Diagnostic Center, Ankara bMedical Genetics Clinic, Women and Children Hospital, Mersin cRadiology Department, School Of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey dDepartment of Histology-Embryology and Cytogenetics, Necker-Enfants malades Hospital, AP-HP eParis Descartes - Sorbonne Paris Cité University, Imagine Institute fINSERM UMR 1163, Embryology and Genetics of Human Malformation, Paris, France.

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http://dx.doi.org/10.1097/MCD.0000000000000080DOI Listing
April 2015

A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.

Turk Pediatri Ars 2014 Jun 1;49(2):154-6. Epub 2014 Jun 1.

Institute of Human Genetics, Freiburg University Hospital, Freiburg, Germany.

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http://dx.doi.org/10.5152/tpa.2014.1187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462283PMC
June 2014

Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.

Int J Endocrinol 2014 23;2014:768506. Epub 2014 Mar 23.

Department of Medical Genetics, Osmangazi University, School of Medicine, 26480 Eskisehir, Turkey.

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http://dx.doi.org/10.1155/2014/768506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981121PMC
April 2014

Ruptured distal middle cerebral artery aneurysm: Case report.

Int J Surg Case Rep 2013 17;4(10):837-8. Epub 2013 Jul 17.

Department of Neurosurgery, Dokuz Eylul University, İzmir, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ijscr.2013.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785863PMC
September 2013

In vitro biomechanical analysis of a new lumbar low-profile locking screw-plate construct versus a standard top-loading cantilevered pedicle screw-rod construct: technical report.

Neurosurgery 2010 Feb;66(2):E404-6; discussion E406

Spinal Biomechanics Laboratory, Division of Neurological Surgery, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Arizona 85013, USA.

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http://dx.doi.org/10.1227/01.NEU.0000363701.76835.BFDOI Listing
February 2010

Trajectory analysis and pullout strength of self-centering lumbar pedicle screws.

J Neurosurg Spine 2009 May;10(5):486-91

Division of Neurological Surgery, Barrow Neurological Institute, St Joseph's Hospital and Medical Center, Phoenix, AZ 85013, USA.

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http://dx.doi.org/10.3171/2009.1.SPINE08274DOI Listing
May 2009

Occipitocervical vertical distraction injuries: anatomical biomechanical, and 3-tesla magnetic resonance imaging investigation.

Spine (Phila Pa 1976) 2008 Sep;33(19):2066-73

Spinal Biomechanics Research Laboratory, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, AZ 85013, USA.

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https://insights.ovid.com/crossref?an=00007632-200809010-000
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http://dx.doi.org/10.1097/BRS.0b013e31817e2cfcDOI Listing
September 2008

SCIWORA in MRI era.

Clin Neurol Neurosurg 2008 May 19;110(5):429-33. Epub 2008 Mar 19.

Department of Neurosurgery, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.clineuro.2008.02.004DOI Listing
May 2008

Pullout resistance of thoracic extrapedicular screws used as a salvage procedure.

Spine J 2007 May-Jun;7(3):286-91. Epub 2006 Sep 11.

Spinal Biomechanics, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, 350 W. Thomas Road, Phoenix, AZ 85013, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S152994300501063
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http://dx.doi.org/10.1016/j.spinee.2005.12.007DOI Listing
July 2007

Augmentation of occipitocervical contoured rod fixation with C1-C2 transarticular screws.

Spine J 2007 Mar-Apr;7(2):180-7. Epub 2006 Dec 4.

Spinal Biomechanics Laboratory and Division of Neurological Surgery, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, 350 W. Thomas Road, Phoenix, AZ 85013, USA.

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http://dx.doi.org/10.1016/j.spinee.2006.04.018DOI Listing
May 2007

Symptomatic vertebral hemangioma related to pregnancy.

Emerg Radiol 2007 Feb 23;13(5):259-63. Epub 2006 Nov 23.

Department of Radiology, KSU Medical School, 46050 Kahramanmaras, Turkey.

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http://link.springer.com/10.1007/s10140-006-0541-5
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http://dx.doi.org/10.1007/s10140-006-0541-5DOI Listing
February 2007

Bilateral orbital emphysema and pneumocephalus as a result of accidental compressed air exposure.

Emerg Radiol 2007 Jan 18;13(4):195-8. Epub 2006 Nov 18.

Department of Radiology, KSU Medical School, 46050, Kahramanmaras, Turkey.

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http://link.springer.com/content/pdf/10.1007/s10140-006-0546
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http://link.springer.com/10.1007/s10140-006-0546-0
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http://dx.doi.org/10.1007/s10140-006-0546-0DOI Listing
January 2007

Diagnostic importance of 3D CT images in Klippel-Feil Syndrome with multiple skeletal anomalies: a case report.

Korean J Radiol 2005 Oct-Dec;6(4):278-81

Kahramanmaras Sutcu Imam University, Radiology Dept., Kahramanmaras, Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684975PMC
http://dx.doi.org/10.3348/kjr.2005.6.4.278DOI Listing
May 2006

Multiple sclerosis and parkinsonism: a case report.

Funct Neurol 2002 Jul-Sep;17(3):145-7

Department of Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.

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March 2003