Detalhe da pesquisa
1.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet
; 94(6): 915-23, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906020
2.
Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
J Clin Immunol
; 37(6): 524-528, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28681255
3.
SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome.
Pediatr Int
; 64(1): e15087, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35438212
4.
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
J Pediatr Hematol Oncol
; 38(8): 661-662, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27769081
5.
Association of GSTM1, GSTT1, GSTP1-ILE105VAL and ACE I/D polymorphisms with ankylosing spondylitis.
Rheumatol Int
; 36(1): 17-23, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26186891
6.
Reanalysis of human blastocysts with different molecular genetic screening platforms reveals significant discordance in ploidy status.
J Assist Reprod Genet
; 33(11): 1467-1471, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27423662
7.
Glutathione S-Transferase M1 and T1 Gene Polymorphisms in Patients with Chronic Plaque-Type Psoriasis: A Case-Control Study.
Med Princ Pract
; 25(2): 155-8, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26535568
8.
Oxytocin system social function impacts in children with attention-deficit/hyperactivity disorder.
Am J Med Genet B Neuropsychiatr Genet
; 168(7): 609-16, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26174935
9.
The prevalence of 4G/5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in central serous chorioretinopathy and its association with plasma PAI-1 levels.
Cutan Ocul Toxicol
; 33(4): 270-4, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24446892
10.
Diffuse Leptomeningeal Glioneuronal Tumors: A Case Series of Five Patients with Parenchymal Forms and an Analysis of the Diagnostic Challenges, Treatment Options and Outcomes.
Curr Med Imaging
; 19(12): 1415-1426, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788686
11.
Comparison of aneuploidy frequencies between in vitro matured and unstimulated cycles oocytes by metaphase comparative genomic hybridization (mCGH).
Mol Biol Rep
; 39(5): 6187-91, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22207182
12.
Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera.
Mol Biol Rep
; 39(9): 8663-7, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22722988
13.
ACE gene I/D polymorphism and risk of sarcoidosis development in Turkish patients.
Tuberk Toraks
; 60(3): 201-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23030744
14.
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Clin Endocrinol (Oxf)
; 73(5): 671-7, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20718767
15.
Sudden blastic crisis and additional chromosomal abnormalities during chronic myeloid leukemia in the imatinib era.
Int J Clin Oncol
; 14(6): 545-50, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19967494
16.
AML1 amplification and 17q25 deletion in a case of childhood acute lymphoblastic leukemia.
J Clin Lab Anal
; 23(6): 368-71, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19927343
17.
Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.
Turk J Pediatr
; 51(2): 161-5, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19480328
18.
The potential utility of real-time PCR of the 16S-rRNA gene in the diagnosis of neonatal sepsis.
Turk J Pediatr
; 61(4): 493-499, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31990465
19.
Correlation of chromosomal imbalances by comparative genomic hybridization and expression of EGFR, PTEN, p53, and MIB-1 in diffuse gliomas.
Oncol Rep
; 17(5): 1037-43, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17390041
20.
Low frequency of p53 and k-ras codon 12 mutations in non-small cell lung carcinoma (NSCLC) tumors and surgical margins.
Tumori
; 93(5): 473-7, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18038880