Banu Guzel Nur

Banu Guzel Nur

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Banu Guzel Nur

Banu Guzel Nur

Publications by authors named "Banu Guzel Nur"

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15Publications

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A novel AXIN2 gene mutation in sagittal synostosis.

Am J Med Genet A 2018 09 8;176(9):1976-1980. Epub 2018 Aug 8.

Department of Medical Biology and Genetics, Akdeniz University, School of Medicine, Antalya, Turkey.

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http://doi.wiley.com/10.1002/ajmg.a.40373
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http://dx.doi.org/10.1002/ajmg.a.40373DOI Listing
September 2018

Celiac disease in patients with Williams-Beuren syndrome.

Turk J Pediatr 2015 Nov-Dec;57(6):599-604

Divisions of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.

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September 2017

Bone mineral density in patients with mucopolysaccharidosis type III.

J Bone Miner Metab 2017 May 18;35(3):338-343. Epub 2016 May 18.

Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey.

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http://dx.doi.org/10.1007/s00774-016-0762-yDOI Listing
May 2017

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.

J Clin Res Pediatr Endocrinol 2016 Sep 18;8(3):360-4. Epub 2016 Apr 18.

Akdeniz University Faculty of Medicine, Department of Pediatric Genetics, Antalya, Turkey, Phone: +90-242-249-6535 E-mail:

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http://dx.doi.org/10.4274/jcrpe.2798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096504PMC
September 2016

Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.

Turk J Pediatr 2014 Jul-Aug;56(4):418-22

Division of Pediatric Genetics, Department of Pediatrics, Akdeniz University, Faculty of Medicine, Antalya, Turkey.

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March 2016

Bilateral congenital cataracts in an infant with Klinefelter syndrome.

Turk J Pediatr 2014 Sep-Oct;56(5):546-50

Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.

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March 2016

A familial interstitial 4q35 deletion with no discernible clinical effects.

Am J Med Genet A 2015 Aug 5;167A(8):1836-41. Epub 2015 Apr 5.

Department of Medical Biology, Faculty of Medicine, Sanko University, Gaziantep, Turkey.

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http://doi.wiley.com/10.1002/ajmg.a.37097
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http://dx.doi.org/10.1002/ajmg.a.37097DOI Listing
August 2015

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.

Eur J Med Genet 2015 Apr 14;58(4):238-42. Epub 2015 Feb 14.

Akdeniz University School of Medicine, Department of Pediatric Genetics, 07059 Antalya, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2015.01.011DOI Listing
April 2015

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.

Am J Med Genet A 2015 Apr 3;167A(4):919-21. Epub 2015 Mar 3.

Faculty of Medicine, Division of Pediatric Genetics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36955DOI Listing
April 2015

The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation.

Turk J Pediatr 2013 Sep-Oct;55(5):559-63

Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.

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January 2015

Epidural capillary hemangioma: A review of the literature.

Clin Neurol Neurosurg 2014 Nov 30;126:99-102. Epub 2014 Aug 30.

Department of Pediatric Neurology, Akdeniz University Medical Faculty, Antalya, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2014.08.026DOI Listing
November 2014

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.

Am J Med Genet A 2013 Sep 2;161A(9):2311-5. Epub 2013 Aug 2.

Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36051DOI Listing
September 2013

Interleukin-6 gene polymorphism in febrile seizures.

Pediatr Neurol 2012 Jan;46(1):36-8

Department of Pediatrics, Antalya Education and Research Hospital, Antalya, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.10.008DOI Listing
January 2012