Firat Ozcelik
Erciyes, 38030, Turkey
Last Updated: 09/26/2026
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Found 9 publications
Investigation of testicular METRNL and RARRES2 expression in non-obstructive azoospermia.
Journal: Journal of applied genetics
Published: June 05, 2026
Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.
Journal: Neurogenetics
Published: October 27, 2025
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.
Journal: Neurogenetics
Published: March 07, 2025
The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.
Journal: Functional & integrative genomics
Published: July 02, 2024
A case of autoimmune lymphoproliferative syndrome with a novel de novo FAS variant.
Journal: Pediatric hematology and oncology
Published: December 04, 2023
PPM1K defects cause mild maple syrup urine disease: The second case in the literature.
Journal: American journal of medical genetics. Part A
Published: October 09, 2022
A Case of Short Stature Caused by a Mutation in the ACAN Gene.
Journal: Molecular syndromology
Published: May 09, 2022
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Journal: Functional & integrative genomics
Published: July 09, 2021
Showing 1-9 of 9
Last Updated: 09/26/2026