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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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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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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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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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Diagnostic Role of 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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Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings

The journal of pediatric research, 2020-12, Vol.7 (4), p.267-272

2020

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Febrile Seizures: Interleukin 1β and Interleukin-1 Receptor Antagonist Polymorphisms

Pediatric neurology, 2009-02, Vol.40 (2), p.113-116

2009

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Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population

Journal of Pediatric Endocrinology and Metabolism, 2020-10, Vol.33 (10), p.1245-1250

2020

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A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes

European journal of medical genetics, 2021-03, Vol.64 (3), p.104154-104154, Article 104154

2021

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What is the Role of Mannose-Binding Lectin Gene Polymorphism in the Development of Acute Post-Streptococcal Glomerulonephritis?

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

2021

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Does Mannose-Binding Lectin Gene Polymorphism in Pediatric Patients Undergoing Peritoneal Dialysis Cause Susceptibility to the Development of Peritonitis?

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

2021

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Response to a letter to the editor regarding ' the comparison of seroconversion rates among different varicella vaccines administered Turkish children; MAV/06 and vOka'

Human vaccines & immunotherapeutics, 2022-11, Vol.18 (5), p.2073760-2073760

2022

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The Effect of Exercise on Bone Mineral Density in Patients with Down Syndrome

The journal of pediatric research, 2018-09, Vol.5 (3), p.118-123

2018

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Izmir Mental Health Cohort for Gene-Environment Interaction in Psychosis (TürkSch): Assessment of the Extended and Transdiagnostic Psychosis Phenotype and Analysis of Attrition in a 6-Year Follow-Up of a Community-Based Sample

Frontiers in psychiatry, 2019-08, Vol.10, p.554-554

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

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

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

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

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

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

Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings

Febrile Seizures: Interleukin 1β and Interleukin-1 Receptor Antagonist Polymorphisms

Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population

A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes

What is the Role of Mannose-Binding Lectin Gene Polymorphism in the Development of Acute Post-Streptococcal Glomerulonephritis?

Does Mannose-Binding Lectin Gene Polymorphism in Pediatric Patients Undergoing Peritoneal Dialysis Cause Susceptibility to the Development of Peritonitis?

Response to a letter to the editor regarding ' the comparison of seroconversion rates among different varicella vaccines administered Turkish children; MAV/06 and vOka'

The Effect of Exercise on Bone Mineral Density in Patients with Down Syndrome

Izmir Mental Health Cohort for Gene-Environment Interaction in Psychosis (TürkSch): Assessment of the Extended and Transdiagnostic Psychosis Phenotype and Analysis of Attrition in a 6-Year Follow-Up of a Community-Based Sample

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