Publications by authors named "Metin Eser"

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Pediatric-Onset Polyarteritis Nodosa and Deficiency of Adenosine Deaminase 2: Clinical Overlap and Divergence.
Sila Atamyildiz Uçar, Eray Tunce, Şeyma Türkmen, Metin Eser, Betül Sözeri

J Clin Rheumatol· December 2025

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Expanding the Genetic Landscape of RASopathies: Significance of Including in Targeted Panels.
Yasemin Kendir-Demirkol, Burcu Yeter, Metin Eser, Murat Hakki Yarar

Mol Syndromol· December 2025

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Multilayered genetic dissection of autism: insights from whole-exome sequencing, molecular karyotyping, and cytogenetic analyses in a small Turkish cohort.
Metin Eser, Gulam Hekimoglu, Busra Kutlubay

Neurogenetics· December 2025

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Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants.
Metin Eser, Gulam Hekimoglu, Busra Kutlubay

Brain Dev· October 2025

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Genetic Etiology Investigation in Treatment-Resistant Nocturnal Enuresis Children: A descriptive study.
Sevim Yener, Metin Eser

Urol J· September 2025

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Diagnostic Challenge of Phenotypic Variability in -related Disorders: Four Novel Variants That Expand the Clinical Spectrum.
Burcu Yeter, Yasemin Kendir Demirkol, Metin Eser, Ahmet Hamdi Akgülle, Betül Sözeri

J Clin Res Pediatr Endocrinol· August 2025

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Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.
Burcu Yeter, Yasemin Kendir Demirkol, Esra Usluer, Sümeyra Oğuz, Metin Eser

Eur J Pediatr· July 2025

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Unraveling the genetic basis of MODY: insights from next-generation sequencing.
Metin Eser, Gulam Hekimoglu, Fatma Dursun

J Appl Genet· May 2025

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Correction to: Unraveling the genetic basis of MODY: insights from next‑generation sequencing.
Metin Eser, Gulam Hekimoglu, Fatma Dursun

J Appl Genet· May 2025

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The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.
Kadir Ulu, Taner Coşkuner, Gülcan Özomay Baykal, Murat Hakkı Yarar, Ramazan Emre Yiğit, Metin Eser

Rheumatology (Oxford)· May 2025

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Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.
Metin Eser, Gulam Hekimoglu, Busra Kutlubay, Safiye Gunes Sager, Ayberk Turkyilmaz

Mol Genet Genomics· December 2024

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Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.
Fatma Dursun, İhsan Turan, Eda Çelebi Bitkin, Elvan Bayramoğlu, Atilla Çayır, Metin Eser

Clin Endocrinol (Oxf)· November 2024

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KRAS G12C mutation in NSCLC in a small genetic center: insights into sotorasib therapy response potential.
Metin Eser, Gulam Hekimoglu, Murat Hakki Yarar, Sezin Canbek, Melike Ozcelik

Sci Rep· November 2024

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Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.
Ilknur Kurt, Metin Eser, Ahmet Kahveci, Ahmet Ucar, Derya Bulus

Clin Endocrinol (Oxf)· August 2024

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Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.
Zeynep Meric, Betul Gemici Karaaslan, Ezgi Yalcin Gungoren, Melika Bektas Hortoglu, Tolga Cavas, Metin Eser

Pediatr Allergy Immunol· June 2024

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Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.
Ayberk Türkyılmaz, Safiye Güneş Sağer, Emine Tekin, Kerem Teralı, Hanife Düzkalır, Metin Eser

Neurogenetics· April 2024

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Corrigendum to "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients" [Clinical Immunology 255 (2023) 109757].
Nalan Yakici, Alexandra Y Kreins, Mehmet Cihangir Catak, Royala Babayeva, Baran Erman, Metin Eser

Clin Immunol· November 2023

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Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Nalan Yakici, Alexandra Y Kreins, Mehmet Cihangir Catak, Royala Babayeva, Baran Erman, Metin Eser

Clin Immunol· October 2023

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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Tuğçe Aksu Uzunhan, Biray Ertürk, Kürşad Aydın, Akif Ayaz, Umut Altunoğlu, Metin Eser

Clin Neurol Neurosurg· January 2023

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Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations.
Fatma Dursun, Hulya Maras Genc, Ayşe Mine Yılmaz, Ibrahim Tas, Metin Eser

Eur J Endocrinol· September 2022

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A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8 T cells.
Royala Babayeva, Cedric Mongellaz, Ibrahim Serhat Karakus, Murat Cansever, Sevgi Bilgic Eltan, Metin Eser

Pediatr Allergy Immunol· March 2022

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Epilepsy in patients with familial hemiplegic migraine.
Buse Rahime Hasırcı Bayır, Kemal Tutkavul, Metin Eser, Betül Baykan

Seizure· May 2021

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A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Metin Eser, Akif Ayaz, Gözde Yeşil

Turk J Pediatr· January 2019

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A case with isochromosome 18p and 2q13 deletion including the BUB1 gene.
Akif Ayaz, Ali Topak, Sinem Yalcintepe, Tamer Celik, Kanay Yararbas, Metin Eser

Clin Dysmorphol· July 2018

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Haploinsufficiency of the Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development.
Metin Eser, Akif Ayaz

Balkan Med J· May 2018

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