Detalhe da pesquisa
1.
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
Dev Cell;
57(20): 2381-2396.e13, 2022 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36228617
2.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet;
108(10): 1981-2005, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582790
3.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A;
185(1): 119-133, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098347
4.
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Dev Cell;
51(6): 713-729.e6, 2019 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735666
5.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet;
105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256877
6.
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.
Eur J Med Genet;
59(11): 604-606, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638328
7.
Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g.20210G>A, and MTHFR variations in prenatallydiagnosed neural tube defects.
Turk J Med Sci;
46(2): 489-94, 2016 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27511516
8.
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Genet Med;
18(12): 1226-1234, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27101134
9.
Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort.
Ophthalmic Genet;
37(4): 415-418, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018927
10.
A rare case of rhombencephalosynapsis and prenatal diagnosis.
J Obstet Gynaecol;
36(6): 839-841, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27012487
11.
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
J Clin Invest;
126(2): 762-78, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26752647
12.
Prenatal diagnosis and outcome of lymphangiomas and its relationship with fetal chromosomal abnormalities.
J Matern Fetal Neonatal Med;
29(3): 466-72, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-25626054
13.
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Neuron;
88(3): 499-513, 2015 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26539891
14.
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Am J Med Genet A;
167A(9): 2132-7, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846457
15.
DNA damage is increased in lymphocytes of patients with metabolic syndrome.
Mutat Res Genet Toxicol Environ Mutagen;
782: 30-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25868129
16.
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
J Clin Invest;
125(2): 636-51, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574841
17.
Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report.
J Pediatr Endocrinol Metab;
28(1-2): 207-10, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25153220
18.
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Eur J Hum Genet;
22(9): 1145-8, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24424126
19.
A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.
Clin Dysmorphol;
23(1): 1-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24300288
20.
Frequency of genetic mutations associated with thromboembolism in the Western Black Sea Region.
Intern Med;
50(1): 17-21, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21212568