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Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia

Brain & development (Tokyo. 1979), 2022-05, Vol.44 (5), p.329-335

2022

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A pooled RT-PCR testing strategy for more efficient COVID-19 pandemic management

International journal of infectious diseases, 2022-03, Vol.116, p.1-6

2022

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Haploinsufficiency of DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development

Balkan medical journal, 2018-05, Vol.35 (3), p.272-274

2018

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DEVOUR: Deleterious Variants on Uncovered Regions in Whole-Exome Sequencing

PeerJ (San Francisco, CA), 2023-09, Vol.11, p.e16026-e16026, Article e16026

2023

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Refractory Burkitt Lymphoma Following Acute Lymphoblastic Leukemia in a Patient with Homozygous PMS2 Deficiency

Turkish journal of haematology, 2024-05, Vol.41 (2), p.126-127

2024

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Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients

Annals of the Indian Academy of Neurology, 2022-03, Vol.25 (2), p.292-294

2022

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A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis

Brain & development (Tokyo. 1979), 2017-02, Vol.39 (2), p.166-170

2017

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NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients

Acta medica Alanya, 2022-03, Vol.6 (1), p.93-99

2022

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Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi, 2020-01

2020

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COVID-19: pathogenesis, genetic polymorphism, clinical features and laboratory findings

TURKISH JOURNAL OF MEDICAL SCIENCES, 2020-04, Vol.50 (SI-1), p.638-657

2020

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Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience

Journal of Pediatric Endocrinology and Metabolism, 2023-01, Vol.36 (1), p.53-57

2023

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Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia

Pamukkale Medical Journal, 2018, Vol.11 (1), p.85-88

2018

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Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings

Clinical neurology and neurosurgery, 2022-03, Vol.214, p.107141-107141, Article 107141

2022

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A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy

Molecular syndromology, 2024-05, p.1-6

2024

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Chronic Neutropenia in Childhood: Laboratory and Clinical Features

Indian journal of pediatrics, 2022-09, Vol.89 (9), p.894-898

2022

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HLA ‐ matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3–phosphatase mutation developed acute myeloid leukemia

Pediatric transplantation, 2022-06, Vol.26 (4), p.e14255-n/a

2022

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Clinical and Immunologic Features of a Patient With Homozygous FNIP1 Variant

Journal of pediatric hematology/oncology, 2024-08, Vol.46 (6), p.e472-e475

2024

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Salmonella Osteomyelitis Due to IRAK-4 Deficiency

Journal of pediatric hematology/oncology, 2024-07, Vol.46 (5), p.275-276

2024

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Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis

Eurasian journal of medicine and oncology, 2022-01

ayaz, akif

2022

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First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype

Clinical neurology and neurosurgery, 2022-10, Vol.221, p.107418, Article 107418

2022

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Prevalence of SARS-CoV-2 Variants in COVID-19 Positive Patients/COVID-19 Pozitif Hastalarda SARS-CoV-2 Varyantlarinin Prevalansi

KLIMIK dergisi, 2022-12, Vol.35 (4), p.220

2022

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Prevalence of SARS-CoV-2 Variants in COVID-19 Positive Patients

KLIMIK dergisi, 2022-11, Vol.35 (4), p.220-223

2022

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How to Manage Low Estriol Levels in Pregnancies, One Center Experience

Medeniyet medical journal, 2022-03, Vol.37 (1), p.62-70

2022

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Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

Clinical genetics, 2022-09, Vol.102 (3), p.201-217

2022

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Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia

A pooled RT-PCR testing strategy for more efficient COVID-19 pandemic management

Haploinsufficiency of DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development

DEVOUR: Deleterious Variants on Uncovered Regions in Whole-Exome Sequencing

Refractory Burkitt Lymphoma Following Acute Lymphoblastic Leukemia in a Patient with Homozygous PMS2 Deficiency

Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients

A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis

NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients

Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

COVID-19: pathogenesis, genetic polymorphism, clinical features and laboratory findings

Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience

Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia

Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings

A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy

Chronic Neutropenia in Childhood: Laboratory and Clinical Features

HLA ‐ matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3–phosphatase mutation developed acute myeloid leukemia

Clinical and Immunologic Features of a Patient With Homozygous FNIP1 Variant

Salmonella Osteomyelitis Due to IRAK-4 Deficiency

Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis

First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype

Prevalence of SARS-CoV-2 Variants in COVID-19 Positive Patients/COVID-19 Pozitif Hastalarda SARS-CoV-2 Varyantlarinin Prevalansi

Prevalence of SARS-CoV-2 Variants in COVID-19 Positive Patients

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

How to Manage Low Estriol Levels in Pregnancies, One Center Experience

Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

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