Aktas D - Search Results

1

Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood.

Koç E, Bayrak G, Suher M, Ensari C, Aktas D, Ensari A. Koç E, et al. Among authors: aktas d. Nephrology (Carlton). 2006 Apr;11(2):81-4. doi: 10.1111/j.1440-1797.2006.00443.x. Nephrology (Carlton). 2006. PMID: 16669965

2

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

3

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Simşek-Kiper PO, Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Simşek-Kiper PO, et al. Among authors: aktas d. Turk J Pediatr. 2011 Sep-Oct;53(5):558-60. Turk J Pediatr. 2011. PMID: 22272459

4

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.

5

Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome.

Cetin II, Aktaş D, Tunçbilek E. Cetin II, et al. Among authors: aktas d. Eur J Med Genet. 2005 Apr-Jun;48(2):183-7. doi: 10.1016/j.ejmg.2005.01.022. Epub 2005 Feb 1. Eur J Med Genet. 2005. PMID: 16053910

6

Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population.

Boduroğlu K, Alanay Y, Alikaşifoğlu M, Aktaş D, Tunçbilek E. Boduroğlu K, et al. Among authors: aktas d. Turk J Pediatr. 2005 Oct-Dec;47(4):327-33. Turk J Pediatr. 2005. PMID: 16363341

7

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Utine GE, Alanay Y, Aktaş D, Talim B, Kale G, Tunçbilek E. Utine GE, et al. Among authors: aktas d. Turk J Pediatr. 2008 May-Jun;50(3):287-90. Turk J Pediatr. 2008. PMID: 18773678

8

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Utine GE, Celik T, Alanay Y, Alikaşifoğlu M, Boduroğlu K, Tunçbilek E, Aktaş D. Utine GE, et al. Among authors: aktas d. Turk J Pediatr. 2009 May-Jun;51(3):199-206. Turk J Pediatr. 2009. PMID: 19817261

9

Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis.

Aktas D, Alikasifoglu M, Gonc N, Senocak ME, Tuncbilek E. Aktas D, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):141-9. doi: 10.1016/j.ejmg.2005.05.012. Epub 2005 Jul 1. Eur J Med Genet. 2006. PMID: 16530711

10

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

Utine EG, Alanay Y, Aktas D, Alikasifoglu M, Boduroglu K, Vermeesch J, Tuncbilek E, Fryns JP. Utine EG, et al. Among authors: aktas d. Eur J Med Genet. 2008 Jul-Aug;51(4):343-50. doi: 10.1016/j.ejmg.2008.03.002. Epub 2008 Mar 27. Eur J Med Genet. 2008. PMID: 18440888

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