Suchergebnisse - "Sılan, Fatma"

PubPharm (107)

1

A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements : A biallelic variant in the ZNF142 gene

enthalten in: American journal of medical genetics. Part A | 2024

von Kaya, D. | Ceylan Köse, C. | Akcan, M. | +1

2

Evaluation of Smooth Muscle Myosin Heavy Chain Isoform Expressions in a Buried Penis

enthalten in: Journal of pediatric surgery | 2024

von Kurtuluş, �. | Süzen, A. | Sılan, F. | +1

3

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

enthalten in: American journal of medical genetics. Part A | 2023

von Kose, C. | Kaya, D. | Akcan, M. | +1

4

Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID-19 pandemic

enthalten in: International journal of rheumatic diseases | 2023

von Akcan, M. | Albuz, B. | Ozdemir, O. | +1

5

Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing

enthalten in: Twin research and human genetics : the official journal of the International Society for Twin Studies | 2023

von Kablan, A. | Silan, F. | Ozdemir, O.

6

Reanalysis of genetic variants detected by next generation sequencing in Parkinson’s disease with two novel variants

enthalten in: ResearchSquare.com | 2023

von KABLAN, A. | Silan, F. | Ozdemir, O.

7

Genetic influence on urinary vitamin D binding protein excretion and serum levels : a focus on rs4588 C>A polymorphism in the GC gene

enthalten in: Frontiers in endocrinology | 2023

von Doğan, D. | Özcan, E. | Çakır, D. | +1

8

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

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2023

von Kose, C. | Kaya, D. | Akcan, M. | +1

9

Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID‐19 pandemic

enthalten in: International Journal of Rheumatic Diseases | 2023

von Akcan, M. | Albuz, B. | Ozdemir, O. | +1

10

A new entity in the NARS2 variant : the first reported case of type 1 diabetes mellitus associated with the phenotype

enthalten in: Journal of tropical pediatrics | 2022

von Cokyaman, T. | Cetin, H. | Dogan, D. | +1

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