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Hatice Koçak Eker

Observed names: Eker, Hatice Koçak, H K Eker, Hatice KOÇAK EKER, Hatice Kocak Eker
Institution: Konya City Hospital
ORCID: 0000-0003-2735-6739
Observed ORCID: 0000-0003-2735-6739
OpenAlex ID: A5034839378
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
2014 · Alain Verloes, Nataliya Di Donato, et al. · European Journal of Human Genetics · 165
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A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis
2014 · Hatice Koçak Eker, Süleyman Ersin Ünlü, et al. · European Journal of Medical Genetics · 18
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
2022 · Ruizhi Duan, Hadia Hijazi, et al. · Human Genetics and Genomics Advances · 15
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser–Winter syndrome
2013 · Hatice Koçak Eker, Betül Emine Derinkuyu, et al. · European Journal of Medical Genetics · 15
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia
2023 · Aslıhan Kiraz, Ozlem Sezer, et al. · Journal of Medical Virology · 11
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
2025 · Avinash V. Dharmadhikari, Maria Alba Abad, et al. · Nature Communications · 7
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Variable expressivity of renal involvement in a further family with Townes–Brocks syndrome
2014 · Hatice Koçak Eker, Özgür Balasar · Clinical Dysmorphology · 7
Holt–Oram syndrome because of the novel TBX5 mutation c.481A>C
2016 · Hatice Koçak Eker, Umut Altunoglu, et al. · Clinical Dysmorphology · 4
Assessment of Pathogenic Variants in the PAH Gene and Genotype–Phenotype Correlation in Phenylketonuria Patients from Turkey
2024 · Özgür Balasar, Banu Kadıoğlu Yılmaz, et al. · Biochemical Genetics · 3
Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey
2024 · Hatice Kocak Eker, Ozgur Balasar · Molecular Syndromology · 3
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Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes
2023 · Muserref Basdemirci, Hatice Kocak Eker · Molecular Syndromology · 3
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The Effect of plasma endocan and asymmetric dimethyl arginine levels on endothelial and cardiac functions in children with beta thalassemia major
2024 · Utku Aygüneş, Ümmügülsüm Can, et al. · 2
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Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report
2025 · Fatma Hilal Yılmaz, Ayça Burcu Kahraman, et al. · Molecular Syndromology · 1
Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.
2014 · T Tos, M Y Alp, et al. · PubMed · 1
Chromosomal Microarray Analysis in Pediatric Patients with Neurodevelopmental Disorders and Congenital Anomalies: A Two-Center Experience
2026 · Hatice Koçak Eker, Sezin Canbek · OSMANGAZİ JOURNAL OF MEDICINE
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Characterization of FMR1 CGG Repeat Structure and AGG Interruption Patterns in Turkish and Syrian Individuals
2026 · Hatice Koçak Eker, Sümeyye Kara, et al. · Gazi Medical Journal
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The Association of FMR1 Gene Low-Normal and High-Normal Alleles with Ovarian Dysfunctions: A Retrospective Analysis from the Turkish Population
2026 · Hatice Kocak Eker, Levent Simsek, et al. · Molecular Syndromology
Novel Variants in PTPN11 , NF1 , RASA2 , and MAP2K1 : Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort
2026 · Hatice Kocak Eker, Tugba Akın Duman, et al. · Clinical Genetics
A TRIM8 Variant in a Child: Neuro‐Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney
2025 · Emre Leventoğlu, Hayriye Nermin Keçeci, et al. · Nephrology
Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant
2024 · Hatice Koçak Eker, Tuğba Tekeli · Molecular Syndromology
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Biallelic PPP2R3C mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals
2021 · Dilek Çiçek, Nick Warr, et al. · 59th ESPE Annual Meeting (ESPE 2021 Online)
Clinical manifestations of 11 children with fronto-ocular syndrome (FOS): a case series
2020 · Hatice Koçak Eker · Child s Nervous System
A Case of Triple-X Syndrome with Situs Inversus Totalis
2013 · Mevlit İKBAL, Hatice KOÇAK EKER, et al. · Turkiye Klinikleri Journal of Medical Sciences
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Escobar Sendromlu Bir Olguda Kaş ve Kirpik Yokluğu
2012 · Hatice Koçak Eker, Serdar Ceylaner, et al. · DergiPark (Istanbul University)
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Evaluation of Effectiveness of Quantitative Fluorescent- Polymerase Chain Reaction (qf-pcr) Technique Using D21s1411 Short Tandem Repeat (str) Marker in the Rapid Prenatal Diag
2010 · Eker, Hatice Koçak, Altungöz, Oğuz, et al. · DergiPark (Istanbul University)
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Works count: 25
Citation count: 255
H-index: 7
I10-index: 5
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