Akif Ayaz

Sisli, Turkey

Last Updated: 09/26/2026

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Found 40 publications

ESAM Loss of Function and Congenital Neurovascular Injury: Strengthening the Case for a Recognizable Clinical Phenotype.

ESAM Loss of Function and Congenital Neurovascular Injury: Strengthening the Case for a Recognizable Clinical Phenotype.

Journal: Clinical genetics

Published: November 21, 2025

A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.

A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.

Journal: Journal of clinical immunology

Published: October 07, 2025

An Overview of Drug-Resistant Epilepsies Based on Advances in Genetics: A Cohort Study.

An Overview of Drug-Resistant Epilepsies Based on Advances in Genetics: A Cohort Study.

Journal: Neurology India

Published: December 05, 2024

Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency.

Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 26, 2024

Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation.

Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation.

Journal: Clinical genetics

Published: October 22, 2024

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Journal: Clinical genetics

Published: October 14, 2024

Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene.

Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene.

Journal: Molecular syndromology

Published: March 18, 2024

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

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

Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology

Published: March 01, 2024

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

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

Journal: Molecular syndromology

Published: February 17, 2024

Clinical and Immunologic Features of a Patient With Homozygous FNIP1 Variant.

Clinical and Immunologic Features of a Patient With Homozygous FNIP1 Variant.

Journal: Journal of pediatric hematology/oncology

Published: February 11, 2024

Salmonella Osteomyelitis Due to IRAK-4 Deficiency.

Salmonella Osteomyelitis Due to IRAK-4 Deficiency.

Journal: Journal of pediatric hematology/oncology

Published: December 11, 2023

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

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

Journal: Nature genetics

Published: July 24, 2023

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Last Updated: 09/26/2026