Baltaci V - Search Results

1

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S; SYNaPS Study Group; El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H. Neuray C, et al. Among authors: baltaci v. Brain. 2020 Aug 1;143(8):2388-2397. doi: 10.1093/brain/awaa178. Brain. 2020. PMID: 32705143 Free PMC article.

2

Prenatally diagnosed case of 22q11.2 deletion syndrome associated with pulmonary artery aneurysm.

Ozer L, Lembet A, Uğurlu N, Baltaci V, Balci S. Ozer L, et al. Among authors: baltaci v. Turk J Pediatr. 2012 Jan-Feb;54(1):74-6. Turk J Pediatr. 2012. PMID: 22397049

3

A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree.

Özer L, Aktuna S, Unsal E, Ünal MA, Sahin G, Baltaci V. Özer L, et al. Among authors: baltaci v. Am J Med Genet A. 2022 Oct;188(10):3078-3083. doi: 10.1002/ajmg.a.62939. Epub 2022 Aug 7. Am J Med Genet A. 2022. PMID: 35934917

4

An Incidental Detection of a Cryptic Complex Chromosome Rearrangement Found During NGS Based PGT-SR: A Case Report.

Özer L, Aktuna S, Unsal E, Baltaci A, Baltaci V. Özer L, et al. Among authors: baltaci v. J Reprod Infertil. 2022 Oct-Dec;23(4):303-309. doi: 10.18502/jri.v23i4.10817. J Reprod Infertil. 2022. PMID: 36452189 Free PMC article.

5

Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion.

Kurtulgan HK, Özer L, Yıldırım ME, Ünsal E, Aktuna S, Baltacı V, Akkuş N, Sezgin İ. Kurtulgan HK, et al. Among authors: baltaci v. Mol Cytogenet. 2015 Nov 21;8:92. doi: 10.1186/s13039-015-0195-7. eCollection 2015. Mol Cytogenet. 2015. PMID: 26594242 Free PMC article.

6

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.

Ozer L, Unsal E, Aktuna S, Baltaci V, Celikkol P, Akyigit F, Sen A, Ayvaz O, Balci S. Ozer L, et al. Among authors: baltaci v. Clin Dysmorphol. 2016 Jul;25(3):91-7. doi: 10.1097/MCD.0000000000000132. Clin Dysmorphol. 2016. PMID: 27100822

7

Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22).

Balci S, Engiz O, Yilmaz Z, Baltaci V. Balci S, et al. Among authors: baltaci v. Genet Couns. 2006;17(3):281-9. Genet Couns. 2006. PMID: 17100195

8

Sister chromatid exchange rate from pleural fluid cells in patients with malignant mesothelioma.

Atalay F, Baltaci V, Alpas I, Savas I, Atikcan S, Balci S. Atalay F, et al. Among authors: baltaci v. Mutat Res. 2000 Feb 16;465(1-2):159-63. doi: 10.1016/s1383-5718(99)00224-7. Mutat Res. 2000. PMID: 10708982

9

Popliteal pterygium associated with neonatal Marfan syndrome: case report.

Derbent M, Gurakan B, Saygil A, Baltaci V, Balci S. Derbent M, et al. Among authors: baltaci v. Clin Dysmorphol. 2001 Jul;10(3):209-13. doi: 10.1097/00019605-200107000-00011. Clin Dysmorphol. 2001. PMID: 11446416

10

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.

Derbent M, Yilmaz Z, Baltaci V, Saygili A, Varan B, Tokel K. Derbent M, et al. Among authors: baltaci v. Am J Med Genet A. 2003 Jan 15;116A(2):129-35. doi: 10.1002/ajmg.a.10832. Am J Med Genet A. 2003. PMID: 12494430

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