Güvenç MS - Search Results

1

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Özyilmaz B, Kirbiyik Ö, Özdemir TR, Kaya Özer Ö, Kutbay YB, Erdogan KM, Güvenç MS, Kale MY, Gazeteci H, Kiliç B, Sertpoyraz F, Diniz G, Baydan F, Gençpinar P, Dündar NO, Yiş U. Özyilmaz B, et al. Among authors: guvenc ms. Ann Hum Genet. 2019 Sep;83(5):331-347. doi: 10.1111/ahg.12319. Epub 2019 May 7. Ann Hum Genet. 2019. PMID: 31066050

2

Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies.

Ozyilmaz B, Kirbiyik O, Koc A, Ozdemir TR, Kaya OO, Guvenc MS, Erdoğan KM, Kutbay YB. Ozyilmaz B, et al. Among authors: guvenc ms. Clin Genet. 2017 Oct;92(4):372-379. doi: 10.1111/cge.12978. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28128450

3

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY).

Özdemir TR, Kırbıyık Ö, Dündar BN, Abacı A, Kaya ÖÖ, Çatlı G, Özyılmaz B, Acar S, Koç A, Güvenç MS, Kutbay YB, Erdoğan KM. Özdemir TR, et al. Among authors: guvenc ms. J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1295-1304. doi: 10.1515/jpem-2018-0184. J Pediatr Endocrinol Metab. 2018. PMID: 30447144

4

cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies.

Koc A, Goksel T, Pelit L, Korba K, Dizdas TN, Baysal E, Uzun UC, Kaya OO, Ozyilmaz B, Kutbay YB, Ozdemir TR, Kirbiyik O, Erdogan KM, Guvenc MS, Kocal GC, Basbinar Y. Koc A, et al. Among authors: guvenc ms. J Breath Res. 2019 May 1;13(3):036006. doi: 10.1088/1752-7163/ab17ff. J Breath Res. 2019. PMID: 30970343

5

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Özyılmaz B, Mercan GC, Kırbıyık Ö, Özdemir TR, Özkara S, Kaya ÖÖ, Kutbay YB, Erdoğan KM, Güvenç MS, Koç A. Özyılmaz B, et al. Among authors: guvenc ms. Turk Arch Otorhinolaryngol. 2019 Sep;57(3):140-148. doi: 10.5152/tao.2019.4320. Epub 2019 Sep 1. Turk Arch Otorhinolaryngol. 2019. PMID: 31620696 Free PMC article.

6

The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci.

Ozyilmaz B, Kirbiyik O, Ozdemir TR, Kaya OO, Kutbay YB, Erdogan KM, Guvenc MS, Koc A. Ozyilmaz B, et al. Among authors: guvenc ms. J Pediatr Genet. 2020 Mar;9(1):9-18. doi: 10.1055/s-0039-1698420. Epub 2019 Oct 16. J Pediatr Genet. 2020. PMID: 31976138 Free PMC article.

7

Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study.

Özdemir TR, Özyılmaz B, Çakmak Ö, Kaya ÖÖ, Köse C, Kırbıyık Ö, Keskin MZ, Koç A, Zeyrek T, Kutbay YB, Erdoğan KM, Güvenç MS. Özdemir TR, et al. Among authors: guvenc ms. Turk J Urol. 2019 Nov 29;46(2):95-100. doi: 10.5152/tud.2019.19156. Print 2020 Mar. Turk J Urol. 2019. PMID: 32125967 Free PMC article.

8

A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation.

Uygur O, Oncel MY, Gencpinar P, Guvenc MS, Dundar NO. Uygur O, et al. Among authors: guvenc ms. J Coll Physicians Surg Pak. 2020 May;30(5):543-544. doi: 10.29271/jcpsp.2020.05.543. J Coll Physicians Surg Pak. 2020. PMID: 32580858

9

Response to Letter to the Editor: "Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet-Biedl syndrome".

Gumus E, Tuncez E, Oz O, Guvenc MS. Gumus E, et al. Among authors: guvenc ms. Ann Hum Genet. 2021 May;85(3-4):103-104. doi: 10.1111/ahg.12420. Epub 2021 Apr 5. Ann Hum Genet. 2021. PMID: 33817793 No abstract available.

10

Experiences in the molecular genetic and histopathological evaluation of calpainopathies.

Ozyilmaz B, Kirbiyik O, Ozdemir TR, Ozer OK, Kutbay YB, Erdogan KM, Guvenc MS, Arıkan Ş, Turk TS, Kale MY, Uludag IF, Baydan F, Sertpoyraz F, Gencpinar P, Diniz G. Ozyilmaz B, et al. Among authors: guvenc ms. Neurogenetics. 2022 Apr;23(2):103-114. doi: 10.1007/s10048-022-00687-4. Epub 2022 Feb 14. Neurogenetics. 2022. PMID: 35157181

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