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De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Castilla-Vallmanya L, Gürsoy S, Giray-Bozkaya Ö, Prat-Planas A, Bullich G, Matalonga L, Centeno-Pla M, Rabionet R, Grinberg D, Balcells S, Urreizti R. Castilla-Vallmanya L, et al. Among authors: gursoy s. Int J Mol Sci. 2021 Feb 4;22(4):1549. doi: 10.3390/ijms22041549. Int J Mol Sci. 2021. PMID: 33557041 Free PMC article.
A newborn with monosomy X in association with corpus callosum agenesis.
Onur Cura D, Iscan B, Gursoy S, Guleryuz H, Cankaya T, Ozturk T, Giray Bozkaya O. Onur Cura D, et al. Among authors: gursoy s. Pediatr Neonatol. 2017 Oct;58(5):455-457. doi: 10.1016/j.pedneo.2016.05.006. Epub 2016 Nov 28. Pediatr Neonatol. 2017. PMID: 28117231 Free article. No abstract available.
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
Aksel Kılıçarslan Ö, Ataman E, Gürsoy S, Hazan F, Randa C, Çankaya T, Erçal D, Ülgenalp A, Giray Bozkaya Ö. Aksel Kılıçarslan Ö, et al. Among authors: gursoy s. Turk J Med Sci. 2018 Oct 31;48(5):911-915. doi: 10.3906/sag-1611-107. Turk J Med Sci. 2018. PMID: 30384553 Free article.
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.
Aksel Kiliçarslan Ö, Ataman E, Gürsoy S, Gürbüz G, Ünalp A, Gençpinar P, Olgaç Dündar N, Edizer S, Ülgenalp A, Giray Bozkaya Ö. Aksel Kiliçarslan Ö, et al. Among authors: gursoy s. Turk J Med Sci. 2020 Oct 22;50(6):1573-1579. doi: 10.3906/sag-1901-170. Turk J Med Sci. 2020. PMID: 32718119 Free PMC article.
The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome.
Gürsoy S, Kutbay YB, Özdemir TR, Hazan F. Gürsoy S, et al. Turk J Pediatr. 2019;61(4):589-593. doi: 10.24953/turkjped.2019.04.017. Turk J Pediatr. 2019. PMID: 31990478 Free article.
Gursoy S, Kutbay YB, Ozdemir TR, Hazan F. The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome. ...
Gursoy S, Kutbay YB, Ozdemir TR, Hazan F. The clinical and molecular features of three Turkish patients with a rare genetic di …
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Sakamoto M, Sasaki K, Sugie A, Nitta Y, Kimura T, Gürsoy S, Cinleti T, Iai M, Sengoku T, Ogata K, Suzuki A, Okamoto N, Iwama K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Miyatake S, Mizuguchi T, Taguri M, Ito S, Takahashi H, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: gursoy s. Hum Mol Genet. 2021 Dec 17;31(1):69-81. doi: 10.1093/hmg/ddab224. Hum Mol Genet. 2021. PMID: 34346499
372 results