Hatice K. Eker
Konya, Turkey
Last Updated: 09/26/2026
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Found 10 publications
A TRIM8 Variant in a Child: Neuro-Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney.
Journal: Nephrology (Carlton, Vic.)
Published: July 04, 2025
Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.
Journal: Molecular syndromology
Published: November 30, 2023
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
Journal: Journal of medical virology
Published: December 09, 2022
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
Journal: HGG advances
Published: March 07, 2022
Clinical manifestations of 11 children with fronto-ocular syndrome (FOS): a case series.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: June 03, 2020
Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome.
Journal: Clinical dysmorphology
Published: September 06, 2014
A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.
Journal: European journal of medical genetics
Published: January 23, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Journal: European journal of human genetics : EJHG
Published: December 08, 2013
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.
Journal: European journal of medical genetics
Published: May 20, 2013
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Last Updated: 09/26/2026