Saat H - Search Results

1

Confirmation of the prenatal mosaic trisomy 2 via fetal USG and cytogenetic analyses.

Tuğ E, Karcaaltincaba D, Yirmibeş Karaoğuz M, Saat H, Özek A. Tuğ E, et al. Among authors: saat h. J Matern Fetal Neonatal Med. 2017 Jul;30(13):1579-1583. doi: 10.1080/14767058.2016.1214700. Epub 2016 Oct 26. J Matern Fetal Neonatal Med. 2017. PMID: 27431726

2

Melanocortin 3 receptor gene polymorphism is associated with polycystic ovary syndrome in Turkish population.

Hepsen S, Cakal E, Karakose M, Eyerci N, Saat H, Beysel S, Oztekin S, Pinarli F, Parlak M. Hepsen S, et al. Among authors: saat h. Gynecol Endocrinol. 2019 Aug;35(8):685-690. doi: 10.1080/09513590.2019.1576614. Epub 2019 Feb 20. Gynecol Endocrinol. 2019. PMID: 30784330 Free article.

3

Mutation spectrum of hereditary myopathies in Turkish patients and novel variants.

Saat H, Sahin I. Saat H, et al. Ann Hum Genet. 2021 Sep;85(5):178-185. doi: 10.1111/ahg.12429. Epub 2021 May 8. Ann Hum Genet. 2021. PMID: 33963534

4

Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy.

Saat H, Şahin İ, Erdem HB, Özgür S, Terlemez Tokgöz S, Bahsi T. Saat H, et al. Anatol J Cardiol. 2022 Jun;26(6):460-465. doi: 10.5152/AnatolJCardiol.2022.1324. Anatol J Cardiol. 2022. PMID: 35703482 Free PMC article.

5

New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.

Sahin I, Saat H. Sahin I, et al. Among authors: saat h. Genet Test Mol Biomarkers. 2022 Jan;26(1):17-25. doi: 10.1089/gtmb.2021.0108. Genet Test Mol Biomarkers. 2022. PMID: 35089076

6

A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2.

Sahin I, Saat H. Sahin I, et al. Among authors: saat h. Mol Biol Rep. 2021 Jun;48(6):5057-5062. doi: 10.1007/s11033-021-06499-3. Epub 2021 Jun 19. Mol Biol Rep. 2021. PMID: 34146199

7

Liquid biopsy: Novel perspectives on the importance and spectrum of PIK3CA, PTEN and RET mutations in solid tumors.

Sahin I, Saat H, Aksoy S, Dizdar O, Erdem HB, Bahsi T. Sahin I, et al. Among authors: saat h. Mol Clin Oncol. 2022 Jan;16(1):1. doi: 10.3892/mco.2021.2434. Epub 2021 Nov 3. Mol Clin Oncol. 2022. PMID: 34824841 Free PMC article.

8

Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations.

Saat H, Sahin I, Duzkale N, Gonul M, Bahsi T. Saat H, et al. Medeni Med J. 2022 Jun 23;37(2):126-130. doi: 10.4274/MMJ.galenos.2022.39924. Medeni Med J. 2022. PMID: 35734965 Free PMC article.

9

Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations.

Sahin I, Saat H. Sahin I, et al. Among authors: saat h. Acta Neurol Belg. 2022 Dec;122(6):1529-1535. doi: 10.1007/s13760-021-01779-y. Epub 2021 Aug 22. Acta Neurol Belg. 2022. PMID: 34420199

10

A PATIENT WITH PARTIAL CHROMOSOME 12q DUPLICATION AND 10q DELETION.

Saat H, Soysal Y, Kurtgoz S, Ergun MA, Percin EF. Saat H, et al. Genet Couns. 2015;26(4):401-7. Genet Couns. 2015. PMID: 26852510

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