Aktas D - Search Results

1

A novel mutation in ATP13A2 gene in a patient with complicated hereditary spastic paraplegia accompanied by tubulopathy.

Inan B, Azman F, Aktas D, Yildiz Y, Saygi S. Inan B, et al. Among authors: aktas d. Acta Neurol Belg. 2023 Oct;123(5):1985-1987. doi: 10.1007/s13760-022-02021-z. Epub 2022 Jul 5. Acta Neurol Belg. 2023. PMID: 35789476 No abstract available.

2

Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3).

Balci S, Unal A, Engiz O, Aktas D, Liehr T, Gross M, Mrasek K, Saygi S. Balci S, et al. Among authors: aktas d. Dev Med Child Neurol. 2007 Mar;49(3):219-24. doi: 10.1111/j.1469-8749.2007.00219.x. Dev Med Child Neurol. 2007. PMID: 17355480 Free article.

3

Two siblings with similar phenotypes: one of them had ring 20 chromosome.

Tezer FI, Aktas D, Alikasifoglu M, Saygi S. Tezer FI, et al. Among authors: aktas d. Clin EEG Neurosci. 2013 Jan;44(1):58-61. doi: 10.1177/1550059412451700. Epub 2012 Nov 27. Clin EEG Neurosci. 2013. PMID: 23188914

4

Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation.

Değerliyurt A, Yayıcı Köken Ö, Teker ND, Aktaş D. Değerliyurt A, et al. Among authors: aktas d. Neurocase. 2021 Aug;27(4):366-371. doi: 10.1080/13554794.2021.1966046. Epub 2021 Aug 16. Neurocase. 2021. PMID: 34396902

5

Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.

Kılıç E, Ertuğrul İ, Özer S, Alikaşifoğlu M, Aktaş D, Boduroğlu K, Ütine GE. Kılıç E, et al. Among authors: aktas d. Turk J Pediatr. 2014 Sep-Oct;56(5):542-5. Turk J Pediatr. 2014. PMID: 26022593

6

Diploid-triploid and tetraploid mosaicism in a child with cryptogenic cirrhosis and membranous glomerulonephritis: a causal relationship or coincidental association?

Topaloğlu R, Aktaş D, Bakkaloğlu A, Balci S, Doğru D, Oztürk R. Topaloğlu R, et al. Among authors: aktas d. Turk J Pediatr. 1998 Jan-Mar;40(1):139-43. Turk J Pediatr. 1998. PMID: 9673542

7

Mucinous carcinoma of the colon in a 16-year-old Turkish boy with Bloom syndrome: cytogenetic, histopathologic, TP53 gene and protein expression studies.

Balci S, Aktas D. Balci S, et al. Among authors: aktas d. Cancer Genet Cytogenet. 1999 May;111(1):45-8. doi: 10.1016/s0165-4608(98)00175-7. Cancer Genet Cytogenet. 1999. PMID: 10326590

8

Frequency of fragile X syndrome among Turkish patients with mental retardation of unknown etiology.

Tunçbilek E, Alikasifoğlu M, Boduroğlu K, Aktas D, Anar B. Tunçbilek E, et al. Among authors: aktas d. Am J Med Genet. 1999 May 28;84(3):202-3. doi: 10.1002/(sici)1096-8628(19990528)84:3<202::aid-ajmg6>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10331591 No abstract available.

9

Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with Fraser syndrome.

Balci S, Altinok G, Ozaltin F, Aktaş D, Niron EA, Onol B. Balci S, et al. Among authors: aktas d. Prenat Diagn. 1999 Sep;19(9):856-58. doi: 10.1002/(sici)1097-0223(199909)19:9<856::aid-pd628>3.0.co;2-x. Prenat Diagn. 1999. PMID: 10521845

10

Screening for the fragile X syndrome among mentally retarded males by hair root analysis.

Tunçbilek E, Alikasifoğlu M, Aktas D, Duman F, Yanik H, Anar B, Oostra B, Willemsen R. Tunçbilek E, et al. Among authors: aktas d. Am J Med Genet. 2000 Nov 13;95(2):105-7. doi: 10.1002/1096-8628(20001113)95:2<105::aid-ajmg3>3.0.co;2-6. Am J Med Genet. 2000. PMID: 11078558

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

147 results

Search Page

Filters