Mustafa Tekin

Mustafa Tekin

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Mustafa Tekin

Publications by authors named "Mustafa Tekin"

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98Publications

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Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation.

J Mol Med (Berl) 2018 Nov 3;96(11):1227-1238. Epub 2018 Oct 3.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.

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November 2018

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Mol Cytogenet 2018 1;11:43. Epub 2018 Aug 1.

1Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, 1601 NW 12th Avenue, Miami, FL 33136 USA.

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August 2018

A Novel Variant in Confirms its Causative Role in Sensorineural Hearing Loss.

Balkan Med J 2018 03 29;35(2):196-198. Epub 2017 Sep 29.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.

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March 2018

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia.

Clin Dysmorphol 2018 Jan;27(1):9-11

aGenomic Medicine ProgrambDr John T. Macdonald Foundation Department of Human GeneticscDivision of Pediatric Hematology and Oncology, Department of PediatricsdJohn P. Hussman Institute for Human GenomicseDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida, USA.

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January 2018

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

PLoS One 2017 11;12(12):e0189324. Epub 2017 Dec 11.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.

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January 2018

KBG syndrome.

Orphanet J Rare Dis 2017 12 19;12(1):183. Epub 2017 Dec 19.

Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-336 (M-860), Miami, FL, 33136, USA.

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December 2017

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Int J Pediatr Otorhinolaryngol 2017 Oct 8;101:167-171. Epub 2017 Aug 8.

John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller School of Medicine, Miami, FL, USA. Electronic address:

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October 2017

A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion.

Acta Med Iran 2017 Oct;55(10):661-663

Department of Medical Genetics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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October 2017

Prolonged pacifier usage in infancy does not cause eating behavior problem later.

Turk J Pediatr 2015 Sep-Oct;57(5):487-91

Departments of Pediatrics, Çanakkale Onsekiz Mart University Faculty of Medicine, Çanakkale, Turkey.

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September 2017

Research of genetic bases of hereditary non-syndromic hearing loss.

Turk Pediatri Ars 2017 Sep 1;52(3):122-132. Epub 2017 Sep 1.

Department of Medical Genetics, Erciyes University Faculty of Medicine, Kayseri, Turkey.

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September 2017

Novel EYA1 variants causing Branchio-oto-renal syndrome.

Int J Pediatr Otorhinolaryngol 2017 Jul 26;98:59-63. Epub 2017 Apr 26.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

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July 2017

Novel Causative Variants in , and Associated with Intellectual Disability and Additional Phenotypic Features.

J Pediatr Genet 2017 Jun 14;6(2):77-83. Epub 2017 Feb 14.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, United States.

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June 2017

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Hear Res 2017 04 12;347:56-62. Epub 2017 Jan 12.

Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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April 2017

Dominant deafness-onychodystrophy syndrome caused by an mutation.

Clin Case Rep 2017 04 8;5(4):376-379. Epub 2017 Feb 8.

John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA; Department of Human Genetics Dr. John T. Macdonald Foundation University of Miami Miller School of Medicine Miami Florida USA.

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April 2017

Elastofibroma dorsi: Clinical evaluation of 61 cases and review of the literature.

Acta Orthop Traumatol Turc 2017 Jan 22;51(1):7-11. Epub 2016 Oct 22.

Çukurova University Faculty of Medicine, Department of Orthopedics and Traumatology, Adana, Turkey.

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January 2017

Clinical and pathological results of denosumab treatment for giant cell tumors of bone: Prospective study of 14 cases.

Acta Orthop Traumatol Turc 2017 Jan 24;51(1):1-6. Epub 2016 Oct 24.

Çukurova University Faculty of Medicine, Department of Orthopedics and Traumatology, Adana, Turkey.

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January 2017

Anatomic compatibility of femoral intramedullary implants: a cadaveric study.

Acta Orthop Traumatol Turc 2016 ;50(2):222-6

Çukurova University Faculty of Medicine, Department of Orthopaedics and Traumatology, Adana, Turkey.

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December 2016

Effect of delivery mode on postpartum neonatal body temperatures.

J Matern Fetal Neonatal Med 2016 8;29(3):385-8. Epub 2015 Jan 8.

d Department of Anesthesiology and Reanimation, Medical Faculty , Dokuz Eylül University , İzmir , Turkey.

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October 2016

Relationship between Abdominal Aortic Intima Media Thickness and Central Obesity in Children.

Horm Res Paediatr 2016 25;85(1):43-8. Epub 2015 Nov 25.

Department of Pediatrics, Faculty of Medicine, x00C7;anakkale Onsekiz Mart University, x00C7;anakkale, Turkey.

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October 2016

Audiological findings in Noonan syndrome.

Int J Pediatr Otorhinolaryngol 2016 Oct 27;89:50-4. Epub 2016 Jul 27.

Dr. John Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, USA.

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October 2016

Reply.

J AAPOS 2016 10 21;20(5):469-470. Epub 2016 Sep 21.

Department of Ophthalmology, Canakkale Onsekiz Mart University School of Medicine, Canakkale, Turkey.

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October 2016

Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.

Ann Saudi Med 2015 Nov-Dec;35(6):462-7

Dr. Seda Orenay-Boyacioglu, Department of Medical Genetics,, Celal Bayar University Faculty of Medicine,, Celal Bayar University,, Manisa 45010, Turkey,

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September 2016

Benign Acute Childhood Myositis due to Toxoplasmosis.

Indian J Pediatr 2016 Jul 7;83(7):729. Epub 2015 Dec 7.

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University, 17000, Çanakkale, Turkey.

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July 2016

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

PLoS One 2015 11;10(11):e0142154. Epub 2015 Nov 11.

Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey.

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June 2016

Association between teething and independent walking in healthy children.

Turk J Pediatr 2015 Jan-Feb;57(1):53-9

Department of Pediatrics, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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June 2016

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity.

Cell 2016 Jun 9;166(1):88-101. Epub 2016 Jun 9.

Department of Pathology, New York University School of Medicine, New York, NY 10016, USA; Department of Microbiology and Immunology, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, New York University School of Medicine, New York, NY 10016, USA. Electronic address:

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June 2016

Does intrauterine tobacco exposure increase the pain perception of newborns?

J Pain Res 2016 31;9:319-23. Epub 2016 May 31.

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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June 2016

Next generation sequencing: implications in personalized medicine and pharmacogenomics.

Mol Biosyst 2016 05;12(6):1818-30

Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Niayesh-Vali asr Intersection, Tehran, Iran.

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May 2016

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Proc Natl Acad Sci U S A 2016 May 9;113(21):5993-8. Epub 2016 May 9.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136

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May 2016

Hearing Assessment in Zebrafish During the First Week Postfertilization.

Zebrafish 2016 Apr 26;13(2):79-86. Epub 2016 Jan 26.

1 Department of Biology, University of Miami , Coral Gables, Florida.

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April 2016

Serum ischemia-modified albumin levels in adolescent smokers.

Int J Adolesc Med Health 2016 Apr 9;30(1). Epub 2016 Apr 9.

Faculty of Medicine, Department of Pediatrics, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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April 2016

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Hear Res 2016 Mar 2;333:179-184. Epub 2016 Feb 2.

Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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March 2016

Do we really ponder about necessity of intravenous hydration in acute bronchiolitis?

Colomb Med (Cali) 2016 Mar 30;47(1):21-4. Epub 2016 Mar 30.

Çanakkale Onsekiz Mart University, Faculty of Medicine, Department of Pediatrics, Çanakkale, Türkiye.

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March 2016

Correlation of ischemia-modified albumin levels and histopathologic findings in experimental ovarian torsion.

Turk J Emerg Med 2016 Mar 10;16(1):8-11. Epub 2016 Mar 10.

Department of Biochemistry, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey.

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March 2016

Relation between QT Variables and Left Ventricular Geometry in Athletes and Obese Children.

Acta Med Port 2016 Feb 29;29(2):95-100. Epub 2016 Feb 29.

Department of Pediatric Cardiology. Faculty of Medicine. Çanakkale Onsekiz Mart University. Çanakkale. Turkey.

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February 2016

Prenatal maternal risk factors for infantile colic.

Nurs Child Young People 2015 Dec;27(10):32-8

Çanakkale Onsekiz Mart University, Faculty of Medicine, Turkey.

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December 2015

The effect of radiofrequency thermal ablation method on nasal mucociliary activity in patients with inferior turbinate hypertrophy.

Kulak Burun Bogaz Ihtis Derg 2014 Sep-Oct;24(5):247-53

Department of Otolaryngology, Acıpayam State Hospital, Denizli, Turkey.

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October 2015

Glucagon-like peptide-2 exhibits protective effect on hepatic ischemia-reperfusion injury in rats.

Front Med 2015 Sep 19;9(3):368-73. Epub 2015 Aug 19.

Medical Faculty, Department of Pediatrics, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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September 2015

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

Orphanet J Rare Dis 2015 Sep 30;10:128. Epub 2015 Sep 30.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 M-860, Miami, FL, 33136, USA.

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September 2015

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Mol Genet Genomics 2015 Aug 30;290(4):1327-34. Epub 2015 Jan 30.

Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Route sidimansour Km 6, BP '1177', 3018, Sfax, Tunisia.

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August 2015

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.

J Pediatr 2015 Aug 23;167(2):489-91. Epub 2015 May 23.

Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL. Electronic address:

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August 2015

A Case of Giant Uterine Lipoleiomyoma Simulating Malignancy.

Case Rep Obstet Gynecol 2015 22;2015:926961. Epub 2015 Jul 22.

Department of Obstetrics and Gynecology, Yuzuncu Yil University, 65000 Van, Turkey.

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August 2015

Protective role of Proanthocyanidin in experimental ovarian torsion.

Med J Islam Repub Iran 2015 23;29:185. Epub 2015 Feb 23.

Assistant Professor, Department of Emergency Medicine, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

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June 2015

Serum Ischemia-Modified Albumin Levels in Experimental Model of Acute Pancreatitis.

J Coll Physicians Surg Pak 2015 Jun;25(6):395-8

Department of Pathology, Düzce Atatürk State Hospital, Düzce, Turkey.

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June 2015

Whole-exome sequencing and its impact in hereditary hearing loss.

Genet Res (Camb) 2015 Mar 31;97:e4. Epub 2015 Mar 31.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics,Miller School of Medicine,University of Miami,USA.

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March 2015

Similar phenotypes caused by mutations in OTOG and OTOGL.

Ear Hear 2014 May-Jun;35(3):e84-91

1Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 4Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain; 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain; 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; 7Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; 9Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA; 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey; and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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February 2015

Early detection of myocardial deformation by 2D speckle tracking echocardiography in normotensive obese children and adolescents.

Anatol J Cardiol 2015 Feb 8;15(2):151-7. Epub 2014 Apr 8.

Department of Pediatric Cardiology, Faculty of Medicine, Çanakkale Onsekiz Mart University; Çanakkale-Turkey.

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February 2015

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Hum Genet 2015 Feb 21;134(2):181-90. Epub 2014 Nov 21.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA,

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February 2015

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.

BMC Med Genet 2015 Feb 25;16. Epub 2015 Feb 25.

John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

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February 2015

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.

Dev Cell 2015 Jan 31;32(1):31-42. Epub 2014 Dec 31.

Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McEwen Center for Regenerative Medicine, University Health Network, Toronto, ON M5G 1L7, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5G 1X5, Canada; Department of Physiology, University of Toronto, Toronto, ON M5G 1X5, Canada. Electronic address:

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January 2015

Mean platelet volume and ischemia modified albumin levels in cord blood of infants of diabetic mothers.

Pediatr Neonatol 2014 Dec 20;55(6):455-8. Epub 2014 May 20.

Çanakkale Onsekiz Mart University Medical Faculty, Department of Obstetrics and Gynecology, Çanakkale, Turkey.

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December 2014

The effects of passive smoking on the six-minute walk test in obese pediatric cases.

J Clin Res Pediatr Endocrinol 2014 Dec;6(4):245-9

Çanakkale Onsekiz Mart University Faculty of Medicine, Department of Pediatrics, Çanakkale, Turkey. E-ma-il:

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December 2014

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria.

Int J Pediatr Otorhinolaryngol 2014 Nov 23;78(11):1870-3. Epub 2014 Aug 23.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

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November 2014

Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome.

Indian Pediatr 2014 Nov;51(11):919-20

Department of Pediatrics, Division of Genetics, MAMC and Associated Lok Nayak Hospital, New Delhi, India; and *John P Hussman Institute for Human Genetics, University of Miami, Miller Scool of Medicine, Miami, FL, USA. Correspondence to: Dr Seema Kapoor, M-439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, India.

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November 2014

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Genet Test Mol Biomarkers 2014 Sep 25;18(9):658-61. Epub 2014 Jul 25.

1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.

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September 2014

Complement activation by ligand-driven juxtaposition of discrete pattern recognition complexes.

Proc Natl Acad Sci U S A 2014 Sep 2;111(37):13445-50. Epub 2014 Sep 2.

Department of Biomedicine, Health, Aarhus University, 8000 Aarhus C, Denmark;

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September 2014

Reply to Teasdale and Collins: N-terminal region of FAM65B bears similarity to the PX-BAR module of SNX33.

Proc Natl Acad Sci U S A 2014 Sep 19;111(39):E4065. Epub 2014 Sep 19.

Dr. John T. Macdonald Foundation Department of Human Genetics, and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136

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September 2014

Neutrophil-to-lymphocyte ratio as a novel-potential marker for predicting prognosis of Bell palsy.

Laryngoscope 2014 Jul 31;124(7):1678-81. Epub 2013 Dec 31.

Department of Otolaryngology, Afyon Kocatepe University, Faculty of Medicine, Afyonkarahisar, Turkey.

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July 2014

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.

PLoS One 2013 6;8(12):e82810. Epub 2013 Dec 6.

Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.

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July 2014

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

Proc Natl Acad Sci U S A 2014 Jul 23;111(27):9864-8. Epub 2014 Jun 23.

Dr. John T. Macdonald Foundation Department of Human Genetics,John P. Hussman Institute for Human Genomics, andDivision of Pediatric Genetics, Ankara University School of Medicine, Ankara 06100, Turkey

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July 2014

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

Hum Genet 2014 Jun 13;133(6):737-42. Epub 2013 Dec 13.

Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

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June 2014

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.

Eur J Pediatr 2014 Jun 16;173(6):827-30. Epub 2014 Apr 16.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA,

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June 2014

Evidence for genotype-phenotype correlation for OTOF mutations.

Int J Pediatr Otorhinolaryngol 2014 Jun 28;78(6):950-3. Epub 2014 Mar 28.

Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States; Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey. Electronic address:

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June 2014

The promise of whole-exome sequencing in medical genetics.

J Hum Genet 2014 Jan 7;59(1):5-15. Epub 2013 Nov 7.

Department of Medical Genetics, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran.

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January 2014

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT.

Pediatr Nephrol 2013 Nov 28;28(11):2143-7. Epub 2013 Jun 28.

Division of Pediatric Nephrology, Ankara University School of Medicine, 06100, Ankara, Turkey.

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November 2013

Passive smoking increases pain perception in children undergoing venous catheterization.

Acta Paediatr 2013 Nov 10;102(11):e493-6. Epub 2013 Aug 10.

Department of Pediatrics, Medical Faculty, Çanakkale Onsekiz Mart University, Canakkale, Turkey.

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November 2013

Reply to: 'passive smoking increases pain perception in children undergoing venous catheterization'.

Acta Paediatr 2013 Nov;102(11):e483

Department of Pediatrics, Medical Faculty, Çanakkale Onsekiz Mart University, Çanakkale, Türkiye.

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November 2013

Screening of families of patients with left-sided cardiovascular anomalies.

Pediatr Int 2013 Oct 12;55(5):555-60. Epub 2013 Aug 12.

Pediatric Cardiology Unit, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey.

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October 2013

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.

Ren Fail 2013 Oct 7;35(9):1281-4. Epub 2013 Aug 7.

Department of Medical Genetics, Erciyes University School of Medicine , Kayseri , Turkey .

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October 2013

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray.

Mol Cytogenet 2013 Sep 20;6(1):38. Epub 2013 Sep 20.

Department of Pathology and Mailman Center for Child Development, Room 7050, University of Miami Miller School of Medicine, 1601 NW 12th Avenue, Miami, FL 33136, USA.

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September 2013

Next-generation sequencing in genetic hearing loss.

Genet Test Mol Biomarkers 2013 Aug 5;17(8):581-7. Epub 2013 Jun 5.

Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

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August 2013

Different navigation of the hypoglossal nerve in the same patient: in the light of the literature.

J Craniofac Surg 2013 Jul;24(4):e393-4

Department of Otolaryngology, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey.

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July 2013

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.

Hum Mutat 2013 Jun 3;34(6):842-6. Epub 2013 Apr 3.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.

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June 2013

Nontraumatic massive spontaneous hemothorax with concomitant warfarin use.

Case Rep Emerg Med 2013 12;2013:546024. Epub 2013 May 12.

Department of Emergency Medicine, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey.

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June 2013

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

PLoS One 2012 30;7(11):e50628. Epub 2012 Nov 30.

John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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May 2013

A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.

Genet Test Mol Biomarkers 2013 Mar 8;17(3):260-4. Epub 2013 Jan 8.

Department of Medical Genetics, Erciyes University School of Medicine, Kayseri, Turkey.

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March 2013