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Metin Eser

Cantú Syndrome Is Caused by Mutations in ABCC9
2012 · Bregje W.M. van Bon, Christian Gilissen, et al. · The American Journal of Human Genetics · 168
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Epilepsy in patients with familial hemiplegic migraine
2021 · Buse Rahime Hasırcı Bayır, Kemal Tutkavul, et al. · Seizure · 33
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
2022 · Tuğçe Aksu Uzunhan, Biray Ertürk, et al. · Clinical Neurology and Neurosurgery · 17
The expression of HER-2/neu (c-erbB2), survivin and cycline D1 in serous ovarian neoplasms: their correlation with clinicopathological variables
2014 · Gulay Turan, Ceyda Sancakli Usta, et al. · Journal of Molecular Histology · 17
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
2023 · Nalan Yakici, Alexandra Y. Kreins, et al. · Clinical Immunology · 13
Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity
2024 · Zeynep Meric, Betul Gemici Karaaslan, et al. · Pediatric Allergy and Immunology · 10
The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance
2025 · Kadir Ulu, Taner Coşkuner, et al. · Rheumatology · 7
Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis
2024 · Metin Eser, Gulam Hekimoglu, et al. · Molecular Genetics and Genomics · 7
Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development
2017 · Metin Eser, Akif Ayaz · Balkan Medical Journal · 7
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Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal‐recessive hypophosphataemic rickets type 2
2024 · Fatma Dursun, İhsan Turan, et al. · Clinical Endocrinology · 6
Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations
2022 · Fatma Dursun, Hulya Maras Genc, et al. · European Journal of Endocrinology · 6
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene
2017 · Metin Eser, Akif Ayaz, et al. · The Turkish Journal of Pediatrics · 6
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KRAS G12C mutation in NSCLC in a small genetic center: insights into sotorasib therapy response potential
2024 · Metin Eser, Gulam Hekimoglu, et al. · Scientific Reports · 4
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Severe adrenal insufficiency in six neonates with normal newborn screening for CAH
2024 · Ilknur Kurt, Metin Eser, et al. · Clinical Endocrinology · 4
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A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8 + T cells
2022 · Royala Babayeva, Cedric Mongellaz, et al. · Pediatric Allergy and Immunology · 4
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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
2025 · Burcu Yeter, Yasemin Kendir Demirkol, et al. · European Journal of Pediatrics · 3
Unraveling the genetic basis of MODY: insights from next-generation sequencing
2024 · Metin Eser, Gulam Hekimoglu, et al. · Journal of Applied Genetics · 3
Effective interleukin-6 inhibition in a pediatric patient with mevalonate kinase deficiency and chronic nonbacterial osteomyelitis–like bone lesions under interleukin-1 blockade
2026 · Eray Tunce, Sıla Atamyıldız Uçar, et al. · The Turkish Journal of Pediatrics · 2
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Genetic Etiology Investigation in Treatment-Resistant Nocturnal Enuresis Children: A descriptive study.
2025 · Sevim Yener, Metin Eser · Urology journal./Urology jornal. · 2
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Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants
2025 · Metin Eser, Gulam Hekimoglu, et al. · Brain and Development · 2
Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels
2025 · Yasemin Kendir-Demirkol, Burcu Yeter, et al. · Molecular Syndromology · 2
A case with isochromosome 18p and 2q13 deletion including the BUB1 gene
2018 · Akif Ayaz, Ali Topak, et al. · Clinical Dysmorphology · 2
The TWIST2 mutation causes Setleis syndrome: a rare clinical case report
2016 · Akif Ayaz, Sinem Yalcintepe, et al. · Clinical Dysmorphology · 2
Pediatric-Onset Polyarteritis Nodosa and Deficiency of Adenosine Deaminase 2: Clinical Overlap and Divergence
2025 · Sila Atamyildiz Uçar, Eray Tunce, et al. · JCR Journal of Clinical Rheumatology · 1
Diagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum
2025 · Burcu Yeter, Yasemin Kendir Demirkol, et al. · Journal of Clinical Research in Pediatric Endocrinology · 1
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Works count: 46
Citation count: 333
H-index: 7
I10-index: 6
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