Ferda E. Percin

Izmir, Turkey

Last Updated: 09/26/2026

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Found 33 publications

Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.

Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.

Journal: Genes

Published: January 23, 2026

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Journal: Turkish archives of pediatrics

Published: March 17, 2025

Increased Red Blood Cell Count With High Hemoglobin Indicates a Different Diagnosis From Beta-thalassemia Trait, Regardless of Mean Corpuscular Volume: Hereditary Hemochromatosis-A Retrospective Analysis.

Increased Red Blood Cell Count With High Hemoglobin Indicates a Different Diagnosis From Beta-thalassemia Trait, Regardless of Mean Corpuscular Volume: Hereditary Hemochromatosis-A Retrospective Analysis.

Journal: Journal of pediatric hematology/oncology

Published: October 11, 2024

A case of U2AF2 -related developmental disorder: long-term follow-up and expansion of the phenotype.

A case of U2AF2 -related developmental disorder: long-term follow-up and expansion of the phenotype.

Journal: Clinical dysmorphology

Published: June 10, 2024

Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al.

Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al.

Journal: American journal of medical genetics. Part A

Published: October 30, 2023

Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.

Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.

Journal: American journal of medical genetics. Part A

Published: January 29, 2023

A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease.

A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease.

Journal: American journal of medical genetics. Part A

Published: July 04, 2022

A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.

A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.

Journal: American journal of medical genetics. Part A

Published: December 15, 2021

Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn.

Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: November 28, 2021

Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey.

Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey.

Journal: Molecular biology reports

Published: March 04, 2021

Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome.

Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome.

Journal: European journal of medical genetics

Published: October 26, 2020

Is cervical swab an efficient method for developing a new noninvasive prenatal diagnostic test for numerical and structural chromosome anomalies?

Is cervical swab an efficient method for developing a new noninvasive prenatal diagnostic test for numerical and structural chromosome anomalies?

Journal: Turkish journal of medical sciences

Published: September 30, 2020

Showing 1-12 of 33

Last Updated: 09/26/2026