Detalhe da pesquisa
1.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell
; 157(3): 636-50, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766809
2.
Determination of cytokine profile and associated genes of the signaling pathway in HNSCC.
J Recept Signal Transduct Res
; 42(5): 462-468, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34886759
3.
Evaluation of IL1B rs1143634 and IL6 rs1800796 Polymorphisms with Autism Spectrum Disorder in the Turkish Children.
Immunol Invest
; 51(4): 766-777, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432850
4.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Am J Hum Genet
; 102(1): 27-43, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276006
5.
Three novel mutations in 20 patients with hereditary spastic paraparesis.
Neurol Sci
; 39(9): 1551-1557, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907907
6.
The relation between ankle morphology and osteochondritis dissecans of talus.
Acta Orthop Belg
; 84(2): 229-234, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30462607
7.
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Am J Med Genet A
; 173(10): 2789-2794, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815944
8.
Evaluation and comparison of the effect of hypothermia and ozone on ischemia-reperfusion injury of skeletal muscle in rats.
J Surg Res
; 196(2): 313-9, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25840486
9.
The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children.
Mol Biol Rep
; 41(1): 331-6, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24213830
10.
The role of miRNAs in cancer: from pathogenesis to therapeutic implications.
Future Oncol
; 10(6): 1027-48, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24941988
11.
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.
J Med Genet
; 50(8): 515-20, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23749988
12.
A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
CEN Case Rep
; 2024 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38308744
13.
A new perspective on isotretinoin in pregnancy: Pregnancy outcomes, evaluation of complex phenotypes, and importance of teratological counselling.
Eur J Obstet Gynecol Reprod Biol
; 291: 148-155, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37890418
14.
The First Case Report of 47,XXY/46,XX/46,XY Mosaic Klinefelter Syndrome Patient With Mixed Connective Tissue Disorder.
Am J Mens Health
; 17(3): 15579883231165173, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131295
15.
Should chromosomal analysis be performed routinely during the baseline evaluation of the gender affirmation process? The outcomes of a large cohort of gender dysphoric individuals.
Int J Impot Res
; 35(5): 472-477, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581420
16.
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene.
Ophthalmic Genet
; 44(1): 70-73, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35930384
17.
Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.
Glob Med Genet
; 9(1): 23-28, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35169780
18.
Isolated abducens nerve palsy due to COVID-19.
Strabismus
; 30(1): 35-37, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35000539
19.
Co-existing bipolar disease and 17q12 deletion: a rare case report.
Psychiatr Genet
; 32(1): 30-33, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34629388
20.
The effect of medicarpin on PTEN/AKT signal pathway in head and neck squamous cell carcinoma.
J Cancer Res Ther
; 18(1): 180-184, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381781