Mikail Demir

Kayseri, Turkey

Last Updated: 09/26/2026

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Found 14 publications

Renal and Hematologic Toxicity Profile of [177] Lu-labeled PSMA-targeted radioligand-therapy (177Lu-PSMA-RLT): A Retrospective Cohort Study.

Renal and Hematologic Toxicity Profile of [177] Lu-labeled PSMA-targeted radioligand-therapy (177Lu-PSMA-RLT): A Retrospective Cohort Study.

Journal: Revista espanola de medicina nuclear e imagen molecular

Published: December 10, 2025

Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.

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

Corrigendum to "A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort": [Turkish Journal of Medical Sciences 54 (1) 2024 86-98].

Corrigendum to "A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort": [Turkish Journal of Medical Sciences 54 (1) 2024 86-98].

Journal: Turkish journal of medical sciences

Published: October 01, 2024

Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy.

Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy.

Journal: Journal of neurogenetics

Published: September 25, 2024

Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.

Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.

Journal: Journal of clinical laboratory analysis

Published: September 21, 2023

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.

Journal: Turkish journal of medical sciences

Published: February 15, 2023

A Rare Craniosynostosis Phenotype Associated With a Homozygous CYP26B1 Pathogenic Variant in the Absence of Extremity Synostosis.

A Rare Craniosynostosis Phenotype Associated With a Homozygous CYP26B1 Pathogenic Variant in the Absence of Extremity Synostosis.

Journal: American journal of medical genetics. Part A

Published: June 24, 2022

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.

Journal: Pediatric neurology

Published: June 15, 2022

A Case of Short Stature Caused by a Mutation in the ACAN Gene.

A Case of Short Stature Caused by a Mutation in the ACAN Gene.

Journal: Molecular syndromology

Published: May 09, 2022

Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation

Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation

Journal: Journal of clinical research in pediatric endocrinology

Published: April 12, 2022

Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient.

Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient.

Journal: Endocrine, metabolic & immune disorders drug targets

Published: April 03, 2022

Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years.

Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years.

Journal: Intractable & rare diseases research

Published: February 10, 2022

Showing 1-12 of 14

Last Updated: 09/26/2026