Yalcinkaya C - Search Results

1

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

Tuysuz B, Pehlivan D, Özkök A, Jhangiani S, Yalcinkaya C, Zeybek ÇA, Muzny DM, Lupski JR, Gibbs R, Jaeken J. Tuysuz B, et al. Among authors: yalcinkaya c. JIMD Rep. 2016;26:7-12. doi: 10.1007/8904_2015_478. Epub 2015 Jul 29. JIMD Rep. 2016. PMID: 26219881 Free PMC article.

2

Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome?

Yalçinkaya C, Tüysüz B, Somay G, Cenani A. Yalçinkaya C, et al. Clin Genet. 1997 May;51(5):343-5. doi: 10.1111/j.1399-0004.1997.tb02485.x. Clin Genet. 1997. PMID: 9212184

3

Seizures during treatment of Vitamin B12 deficiency.

Benbir G, Uysal S, Saltik S, Zeybek CA, Aydin A, Dervent A, Yalcinkaya C. Benbir G, et al. Among authors: yalcinkaya c. Seizure. 2007 Jan;16(1):69-73. doi: 10.1016/j.seizure.2006.10.016. Epub 2006 Dec 5. Seizure. 2007. PMID: 17150378 Free article.

4

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Tüysüz B, et al. Among authors: yalcinkaya c. Neurogenetics. 2008 May;9(2):119-25. doi: 10.1007/s10048-008-0121-9. Epub 2008 Mar 6. Neurogenetics. 2008. PMID: 18322713

5

Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.

Tüysüz B, Goldin E, Metin B, Korkmaz B, Yalçinkaya C. Tüysüz B, et al. Among authors: yalcinkaya c. Brain Dev. 2009 Oct;31(9):702-5. doi: 10.1016/j.braindev.2008.10.001. Epub 2008 Nov 8. Brain Dev. 2009. PMID: 19006653

6

Unilateral cerebellar hypoplasia with different clinical features.

Benbir G, Kara S, Yalcinkaya BC, Karhkaya G, Tuysuz B, Kocer N, Yalcinkaya C. Benbir G, et al. Among authors: yalcinkaya c, yalcinkaya bc. Cerebellum. 2011 Mar;10(1):49-60. doi: 10.1007/s12311-010-0225-2. Cerebellum. 2011. PMID: 20967575

7

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.

Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E. Bilir B, et al. Among authors: yalcinkaya c. Clin Genet. 2013 Jan;83(1):66-72. doi: 10.1111/j.1399-0004.2012.01846.x. Epub 2012 Feb 20. Clin Genet. 2013. PMID: 22283455 Free PMC article.

8

A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

Yalcinkaya C, Erturk O, Tuysuz B, Yesil G, Verbeke JI, Keyser B, Stuhrmann M, Steinemann D, Sistermans EA, van der Knaap MS. Yalcinkaya C, et al. Neuropediatrics. 2012 Jun;43(3):159-61. doi: 10.1055/s-0032-1313912. Epub 2012 May 19. Neuropediatrics. 2012. PMID: 22610664

9

Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.

Tüysüz B, Kasapçopur O, Yalçınkaya C, Işık Haşıloğlu Z, Knappskog PM, Boman H. Tüysüz B, et al. Among authors: yalcinkaya c. Brain Dev. 2013 Jun;35(6):596-601. doi: 10.1016/j.braindev.2012.08.011. Epub 2012 Sep 29. Brain Dev. 2013. PMID: 23026229

10

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

Tüysüz B, Bilguvar K, Koçer N, Yalçınkaya C, Çağlayan O, Gül E, Sahin S, Çomu S, Günel M. Tüysüz B, et al. Among authors: yalcinkaya c. Am J Med Genet A. 2014 Jul;164A(7):1677-85. doi: 10.1002/ajmg.a.36514. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700674

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