Leyli Senturk
Istanbul, Turkey
Last Updated: 09/26/2026
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Found 9 publications
Genetic Insights into Persistent Hypouricemia in Adults: Novel Findings from an Adult Nephrogenetic Clinic.
Journal: Kidney diseases (Basel, Switzerland)
Published: March 10, 2026
Exploring Pontocerebellar Hypoplasia Type 1C: A Case Study of the 6 th Family with The EXOSC8 Gene Mutation.
Journal: Annals of Indian Academy of Neurology
Published: April 20, 2025
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Journal: Fetal diagnosis and therapy
Published: August 02, 2023
A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: February 04, 2023
A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: February 02, 2023
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
Journal: Clinical genetics
Published: May 02, 2022
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Journal: Prenatal diagnosis
Published: March 31, 2022
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Journal: American journal of medical genetics. Part A
Published: December 09, 2016
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Last Updated: 09/26/2026