Fatma N. Esen
Bursa, Turkey
Last Updated: 09/26/2026
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Found 24 publications
Environmental monitoring and health risk assessment of polycyclic aromatic hydrocarbons (PAHs) through honeybees (Apis mellifera), honey and pollen.
Journal: Food additives & contaminants. Part B, Surveillance
Published: May 14, 2026
Investigation of Odor, Volatile Organic Compounds (VOC), and Total Organic Carbon (TOC) Parameters Originating from Textile Industry Stenter Stack.
Journal: Toxics
Published: May 07, 2026
Novel Compound Heterozygous Variants in SLC13A3 Associated With ARLIAK: A Case Report and Review of the Literature.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: April 21, 2026
De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.
Journal: American journal of medical genetics. Part A
Published: November 04, 2025
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.
Journal: American journal of medical genetics. Part A
Published: September 29, 2025
Distribution, sediment retention, and carcinogenic risk of polycyclic aromatic hydrocarbons (PAHs) in an urban-industrial river system (Nilüfer Stream, Türkiye).
Journal: Marine pollution bulletin
Published: September 26, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: American journal of human genetics
Published: October 09, 2024
Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review.
Journal: Molecular syndromology
Published: September 24, 2024
A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.
Journal: American journal of medical genetics. Part A
Published: September 07, 2024
Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.
Journal: Frontiers in pediatrics
Published: April 05, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Journal: Frontiers in genetics
Published: November 30, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Journal: European journal of human genetics : EJHG
Published: May 04, 2023
Last Updated: 09/26/2026