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Items: 9

1.

A novel deletion involving exon 13 of factor VIII gene in a newborn with splenic hematoma.

Gurlek Gokcebay D, Akpinar Tekgunduz S, Sarici D, Uysal Ramadan S, Cavdarli B.

Transfus Apher Sci. 2019 Jun 19. pii: S1473-0502(19)30093-X. doi: 10.1016/j.transci.2019.06.002. [Epub ahead of print]

PMID:
31230948
2.

Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency.

Yuksel D, Oguz KK, Azapagası E, Kesici S, Cavdarli B, Konuskan B, Topaloglu H.

Neurol Clin Pract. 2018 Oct;8(5):e18-e20. doi: 10.1212/CPJ.0000000000000511. No abstract available.

PMID:
30564502
3.

Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines.

Purnak S, Topçu V, Çavdarlı B, Kadan E, Yalçın B.

Int J Dermatol. 2018 Nov;57(11):e140-e141. doi: 10.1111/ijd.14209. Epub 2018 Aug 27. No abstract available.

PMID:
30152106
4.

A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl.

Akdogan N, Incel-Uysal P, Cavdarli B, Topcu V, Yalcin B.

Int J Dermatol. 2019 May;58(5):611-613. doi: 10.1111/ijd.14154. Epub 2018 Aug 6. No abstract available.

PMID:
30079965
5.

In Reply.

Asfuroglu M, Cavdarli B, Gurbuz Koz Ö, Yarangumeli AA, Ozdemir EY.

J Glaucoma. 2017 Jul;26(7):685-686. doi: 10.1097/IJG.0000000000000673. No abstract available.

PMID:
28662003
6.

Association of Lysyl Oxidase-Like 1 Gene Polymorphism in Turkish Patients With Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma.

Asfuroglu M, Cavdarli B, Koz OG, A Yarangumeli A, Ozdemir EY.

J Glaucoma. 2017 Feb;26(2):e54-e57. doi: 10.1097/IJG.0000000000000557.

PMID:
27753755
7.

Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings.

Kayhan G, Cavdarli B, Yirmibes Karaoguz M, Percin EF, Oztürk Kaymak A, Biri A, Ergun MA.

Gene. 2013 Jul 25;524(2):355-60. doi: 10.1016/j.gene.2013.04.053. Epub 2013 May 1.

PMID:
23644025
8.

A patient with 9q subtelomeric deletion syndrome with additional findings.

Tug E, Cavdarli B, Karaoguz MY, Percin FE.

Genet Couns. 2012;23(4):465-71.

PMID:
23431745
9.

Duplication 4q associated with chronic cholestatic changes in liver biopsy.

Egritas O, Cavdarli B, Dalgic B, Ergun MA, Percin F, Ziegler M, Pohle B, Liehr T.

Eur J Med Genet. 2010 Nov-Dec;53(6):411-4. doi: 10.1016/j.ejmg.2010.08.008. Epub 2010 Sep 6.

PMID:
20826235

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