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

PloS one, 2015-11, Vol.10 (11), p.e0142154-e0142154

2015

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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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Pregnancy-associated plasma protein A gene polymorphism in pregnant women with preeclampsia and intrauterine growth restriction

The Kaohsiung journal of medical sciences, 2015-10, Vol.31 (10), p.518-522

2015

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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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A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

Human genetics, 2013-11, Vol.132 (11), p.1311-1320

2013

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Testing the psychosis continuum: differential impact of genetic and nongenetic risk factors and comorbid psychopathology across the entire spectrum of psychosis

Schizophrenia bulletin, 2012-09, Vol.38 (5), p.992-1002

2012

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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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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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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 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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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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Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer

Clinical breast cancer, 2021-12, Vol.21 (6), p.e647-e653

2021

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The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies

Neurological sciences, 2020-12, Vol.41 (12), p.3729-3739

2020

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The effects of IGF-1 and erythropoietin on apoptosis and telomerase activity in necrotizing enterocolitis model

Pediatric research, 2021-09, Vol.90 (3), p.559-564

2021

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Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment

Hormone research in paediatrics, 2017-01, Vol.87 (2), p.81-87

2017

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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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Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development

Journal of clinical research in pediatric endocrinology, 2021-03, Vol.13 (1), p.23-33

2021

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The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Human genetics, 2014-01, Vol.133 (1), p.29-39

2014

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Cervical abscess caused by methicillin-susceptible Staphylococcus aureus in an infant infected with SARS-CoV-2: Diagnostic dilemma

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy, 2021-07, Vol.27 (7), p.1092-1096

2021

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Fatal Serogroup B Meningococcemia in a Child Previously Vaccinated With MenACWY-DT Vaccine

Clinical pediatrics, 2021-05, Vol.60 (4-5), p.259-260

2021

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The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era

Pediatric neurology, 2024-08, Vol.157, p.100-107

2024

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

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

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

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

Pregnancy-associated plasma protein A gene polymorphism in pregnant women with preeclampsia and intrauterine growth restriction

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

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

Testing the psychosis continuum: differential impact of genetic and nongenetic risk factors and comorbid psychopathology across the entire spectrum of psychosis

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

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

Clinical Features of COVID-19 in Children

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

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

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

Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer

The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies

The effects of IGF-1 and erythropoietin on apoptosis and telomerase activity in necrotizing enterocolitis model

Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment

A Novel Molecular Indicator for Inhibitor Development in Haemophilia A

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Cervical abscess caused by methicillin-susceptible Staphylococcus aureus in an infant infected with SARS-CoV-2: Diagnostic dilemma

Fatal Serogroup B Meningococcemia in a Child Previously Vaccinated With MenACWY-DT Vaccine

The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era

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