Şahin Y - Search Results

1

A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene.

Özgün N, Şahin Y. Özgün N, et al. Among authors: sahin y. Brain Dev. 2022 Mar;44(3):239-243. doi: 10.1016/j.braindev.2021.11.001. Epub 2021 Nov 18. Brain Dev. 2022. PMID: 34802815

2

A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.

Sahin Y, Güngör O, Ayaz A, Güngör G, Sahin B, Yaykasli K, Ceylaner S. Sahin Y, et al. Among authors: sahin b. Brain Dev. 2017 Feb;39(2):166-170. doi: 10.1016/j.braindev.2016.09.002. Epub 2016 Sep 15. Brain Dev. 2017. PMID: 27640920

3

A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).

Güngör O, Özkaya AK, Şahin Y, Güngör G, Dilber C, Aydın K. Güngör O, et al. Among authors: sahin y. Brain Dev. 2016 Oct;38(9):857-61. doi: 10.1016/j.braindev.2016.04.002. Epub 2016 Apr 23. Brain Dev. 2016. PMID: 27117034

4

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. Meng L, et al. Among authors: sahin y. Ann Neurol. 2021 Apr;89(4):828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8. Ann Neurol. 2021. PMID: 33443317 Free article.

5

Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency.

Bozkurt HB, Şahin Y. Bozkurt HB, et al. Among authors: sahin y. Turk J Pediatr. 2021;63(4):703-707. doi: 10.24953/turkjped.2021.04.019. Turk J Pediatr. 2021. PMID: 34449154 Free article.

6

The TWIST2 mutation causes Setleis syndrome: a rare clinical case report.

Ayaz A, Yalcintepe S, Ozalp Yuregir O, Sahin Y, Ozer A, Eser M, Celik U. Ayaz A, et al. Among authors: sahin y. Clin Dysmorphol. 2017 Apr;26(2):128-131. doi: 10.1097/MCD.0000000000000156. Clin Dysmorphol. 2017. PMID: 27750268 No abstract available.

7

The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach.

Sahin B, Burton E, Kuybu O, Sahin Y, Brinkley J. Sahin B, et al. Among authors: sahin y. Indian J Ophthalmol. 2022 Jul;70(7):2693-2694. doi: 10.4103/ijo.IJO_64_22. Indian J Ophthalmol. 2022. PMID: 35791209 Free PMC article. No abstract available.

8

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

Sahin Y, Güngör O, Gormez Z, Demirci H, Ergüner B, Güngör G, Dilber C. Sahin Y, et al. Acta Neurol Belg. 2017 Mar;117(1):159-167. doi: 10.1007/s13760-016-0721-3. Epub 2016 Nov 14. Acta Neurol Belg. 2017. PMID: 27844444

9

A CASE OF CONFINED PLACENTAL MOSAICISM WITH TRISOMY 15 ASSOCIATED WITH TURNER SYNDROME.

Ekici C, Sahin Y, Yaykasli KO, Melekoglu R, Sahin N, Yuksel S. Ekici C, et al. Among authors: sahin n, sahin y. Genet Couns. 2016;27(4):485-488. Genet Couns. 2016. PMID: 30226967

10

First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X.

Şahin Y, Özcan A. Şahin Y, et al. J Pediatr Genet. 2017 Sep;6(3):174-176. doi: 10.1055/s-0037-1598027. Epub 2017 Jan 18. J Pediatr Genet. 2017. PMID: 28794910 Free PMC article.

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