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DSM outcomes of psychotic experiences and associated risk factors: 6-year follow-up study in a community-based sample

Psychological medicine, 2019-06, Vol.49 (8), p.1346-1356

2019

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A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Journal of clinical research in pediatric endocrinology, 2021-03, Vol.13 (1), p.52-60

2021

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Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

Journal of clinical research in pediatric endocrinology, 2020-03, Vol.12 (1), p.109-112

2020

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Clinical Features of COVID-19 in Children

The journal of pediatric research, 2020-06, Vol.7 (2), p.88-91

2020

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A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

Journal of clinical research in pediatric endocrinology, 2020-03, Vol.12 (1), p.113-116

2020

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A Novel Molecular Indicator for Inhibitor Development in Haemophilia A

The journal of pediatric research, 2021-06, Vol.8 (2), p.102-109

2021

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The Role of Hematological Parameters in Children with COVID-19, MIS-C, and Other Viral Infections

Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi, 2023-12, Vol.13 (3), p.160-169

2023

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Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital

Journal of Pediatric Endocrinology and Metabolism, 2020-05, Vol.33 (5), p.605-611

2020

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The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

Journal of Pediatric Endocrinology and Metabolism, 2021-04, Vol.34 (4), p.417-430

2021

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Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations

Gene, 2018-01, Vol.641, p.186-189

2018

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Whole-genome gene expression analysis in urine samples of patients with prostate cancer and benign prostate hyperplasia

Urologic oncology, 2017-10, Vol.35 (10), p.607.e15-607.e24

2017

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Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Turkish journal of haematology, 2020-01, Vol.37 (3), p.145-153

2020

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The Change of Perinatal Mortality Over Three Decades in a Reference Centre in the Aegean Region: Neonatal Mortality has decreased but Foetal Mortality Remains Unchanged

Balkan medical journal, 2017-12, Vol.34 (6), p.553-558

2017

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Intracranial Bleeding in a Female Hemophilia Patient: Molecular Analysis of the Factor 8 Gene and Determination of a Novel Mutation

Turkish journal of haematology, 2018, Vol.35 (3), p.202-203

2018

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MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome

Balkan medical journal, 2018-03, Vol.35 (2), p.163-166

2018

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Clinical and molecular spectrum of tuberous sclerosis complex patients: identification of three novel mutations

Erciyes Medical Journal, 2021-03

Isik, Esra

2021

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A rare sex chromosome aneuploidy: 48,XXYY syndrome

Turk Pediatri Arsivi, 2016-06, Vol.51 (2), p.106-109

2016

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A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage

Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi, 2021-01

2021

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Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation

Journal of clinical research in pediatric endocrinology, 2017-06, Vol.9 (2), p.179-181

2017

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Two patients with Apert syndrome with different mutations: the importance of early diagnosis

Turk Pediatri Arsivi, 2017-12, Vol.52 (4), p.231-235

2017

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Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

The journal of pediatric research, 2018-03, Vol.5 (1), p.39-43

2018

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Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice

Molecular therapy, 2019-12, Vol.27 (12), p.2123-2133

2019

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Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

The journal of pediatric research, 2018-03, Vol.5 (1), p.60-62

2018

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Genetic Counseling in Neurofibromatosis Type 1

The journal of pediatric research, 2014-09, Vol.1 (3), p.152-154

2014

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Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics

European journal of pediatrics, 2020-09, Vol.179 (9), p.1445-1452

2020

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DSM outcomes of psychotic experiences and associated risk factors: 6-year follow-up study in a community-based sample

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

Clinical Features of COVID-19 in Children

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

A Novel Molecular Indicator for Inhibitor Development in Haemophilia A

The Role of Hematological Parameters in Children with COVID-19, MIS-C, and Other Viral Infections

Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital

The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations

Whole-genome gene expression analysis in urine samples of patients with prostate cancer and benign prostate hyperplasia

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

The Change of Perinatal Mortality Over Three Decades in a Reference Centre in the Aegean Region: Neonatal Mortality has decreased but Foetal Mortality Remains Unchanged

Intracranial Bleeding in a Female Hemophilia Patient: Molecular Analysis of the Factor 8 Gene and Determination of a Novel Mutation

MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome

Clinical and molecular spectrum of tuberous sclerosis complex patients: identification of three novel mutations

A rare sex chromosome aneuploidy: 48,XXYY syndrome

A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage

Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation

Two patients with Apert syndrome with different mutations: the importance of early diagnosis

Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Genetic Counseling in Neurofibromatosis Type 1

Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics

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