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1.
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development
Turk J Med Sci
; 50(6): 1573-1579, 2020 10 22.
Article
in English
| MEDLINE | ID: mdl-32718119
2.
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics
Turk J Med Sci
; 48(5): 911-915, 2018 Oct 31.
Article
in English
| MEDLINE | ID: mdl-30384553
3.
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
J Hum Genet
; 60(1): 1-9, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25296579
4.
The Multilingual Picture Database.
Sci Data
; 9(1): 431, 2022 07 21.
Article
in English
| MEDLINE | ID: mdl-35864133
5.
Relationship between plasminogen activator inhibitor-1 gene alterations and fibrosis in peritoneal dialysis patients.
Ther Apher Dial
; 25(1): 97-102, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-32301223
6.
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
J Hum Genet
; 60(1): 51, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25619591
7.
Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy.
Ann Indian Acad Neurol
; 23(2): 206-210, 2020.
Article
in English
| MEDLINE | ID: mdl-32189863
8.
Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.
Mol Med Rep
; 14(3): 2150-4, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-27431685
9.
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
J Pediatr Endocrinol Metab
; 29(9): 1111-4, 2016 Sep 01.
Article
in English
| MEDLINE | ID: mdl-27544718
10.
Identification of the largest homozygous glycine decarboxylase gene deletion in a Turkish infant.
Pediatr Neonatol
; 59(6): 632-633, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29398553
11.
The rate of sex chromosome aneuploidies in prenatal diagnosis and subsequent decisions in Western Turkey.
Genet Test Mol Biomarkers
; 16(2): 150-3, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-21977968
12.
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.
Orphanet J Rare Dis
; 6: 46, 2011 Jun 23.
Article
in English
| MEDLINE | ID: mdl-21699693
13.
Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype.
Int J Cardiol
; 186: 13-5, 2015.
Article
in English
| MEDLINE | ID: mdl-25804457
14.
The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey.
Genet Test Mol Biomarkers
; 13(2): 163-6, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19371213
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