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Fatma Sılan

9PUBLICATIONS
27CO-AUTHORS
Gene and molecular therapyGene mappingDevelopmental genetics (incl. sex determination)NanoelectronicsCardiology (incl. cardiovascular diseases)
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Journal

Publications (9)

Sort by Publication Date:
|Nov 11, 2024
Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.

Ahmet Kablan, Esma Ertürkmen Aru, Süleyman Atar

|Oct 11, 2024
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey.

Kubra Muge Celik, Canan Ceylan Kose, Derya Kaya

|May 16, 2023
Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.

Canan Ceylan Kose, Derya Kaya, Mehmet Berkay Akcan

|May 04, 2023
Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.

Ahmet Kablan, Fatma Silan, Ozturk Ozdemir

|Jan 20, 2023
A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype.

Turgay Cokyaman, Huriye Cetin, Durmus Dogan

|Aug 05, 2022
A New Mutation, Hb A<sub>2</sub>-Canakkale [δ10(A7)Ala→Val; <i>HBD</i>: c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A<sub>2</sub> Levels.

Taner Karakaya, Fatma Silan, Ozturk Ozdemir

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Frequent Collaborators

3 joint publications

Ozturk Ozdemir

2 joint publications

Ahmet Kablan

2 joint publications

Canan Ceylan Kose

2 joint publications

Derya Kaya

2 joint publications

Semra Özdemir

2 joint publications

Koray Tekin

1 joint publications

Taner Karakaya

1 joint publications

Turgay Cokyaman

1 joint publications

Huriye Cetin

1 joint publications

Durmus Dogan

Frequent Collaborators

3 joint publications

Ozturk Ozdemir

2 joint publications

Ahmet Kablan

2 joint publications

Canan Ceylan Kose

2 joint publications

Derya Kaya

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