Elanur Yilmaz
Antalya, Turkey
Last Updated: 09/26/2026
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Found 15 publications
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Journal: Nature communications
Published: April 30, 2023
Association Between Cystic Fibrosis Severity Markers and CFTR Genotypes in Turkish Children.
Journal: Turkish thoracic journal
Published: February 03, 2022
Sociodemographic, clinical, laboratory, treatment and prognostic characteristics of 156 generalized pustular psoriasis patients in Turkey: a multicentre case series.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: August 28, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Journal: American journal of human genetics
Published: July 02, 2021
Novel Gene Variants Associated with Primary Ciliary Dyskinesia.
Journal: Indian journal of pediatrics
Published: June 07, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Journal: American journal of human genetics
Published: March 19, 2021
Coronal craniosynostosis due to TCF12 mutations in patients from Turkey.
Journal: American journal of medical genetics. Part A
Published: January 26, 2019
Clinical and genetic findings of two cases with Apert syndrome.
Journal: Boletin medico del Hospital Infantil de Mexico
Published: January 19, 2019
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Journal: Human genetics
Published: June 04, 2018
A novel AXIN2 gene mutation in sagittal synostosis.
Journal: American journal of medical genetics. Part A
Published: March 05, 2018
Last Updated: 09/26/2026