Detalhe da pesquisa
1.
Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.
Neurol Sci
; 45(5): 2271-2277, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38012464
2.
Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey.
Pediatr Blood Cancer
; 70(5): e30229, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36860090
3.
Impact of TP53 gene variants on prognosis and survival of childhood acute lymphoblastic leukemia.
Scand J Clin Lab Invest
; 83(3): 187-193, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37029683
4.
Digital distraction levels of university students in emergency remote teaching.
Educ Inf Technol (Dordr)
; : 1-22, 2023 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36688215
5.
Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls.
Scand J Immunol
; 95(3): e13130, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34951041
6.
Should we take precautions to avoid respiratory compromise while delaying CPAP resumption following transsfenoidal surgery? An alternative approach in a patient with severe obstructive sleep apnea: case report.
Acta Neurochir (Wien)
; 164(6): 1615-1618, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482075
7.
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
J Hum Genet
; 66(12): 1145-1151, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117373
8.
Mutational landscape of severe combined immunodeficiency patients from Turkey.
Int J Immunogenet
; 47(6): 529-538, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32445296
9.
Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability.
J Hum Genet
; 64(5): 421-426, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30787422
10.
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
Epilepsia
; 60(5): e31-e36, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30719712
11.
Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.
Pediatr Blood Cancer
; 66(10): e27923, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321910
12.
Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.
Neurol Neurochir Pol
; 53(6): 476-483, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31804703
13.
A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.
Immunogenetics
; 69(10): 653-659, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28597365
14.
The nuclear effector of Wnt-signaling, Tcf1, functions as a T-cell-specific tumor suppressor for development of lymphomas.
PLoS Biol
; 10(11): e1001430, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23185135
15.
herg1b expression as a potential specific marker in pediatric acute myeloid leukemia patients with HERG 897K/K genotype.
Pediatr Hematol Oncol
; 32(3): 182-92, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25247487
16.
Local Renin-Angiotensin system in normal hematopoietic and multiple myeloma-related progenitor cells.
Turk J Haematol
; 31(2): 136-42, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25035670
17.
Memantine and SKF82958 but not an enriched environment modulate naloxone-precipitated morphine abstinence syndrome without affecting hippocampal tPA mRNA levels in rats.
Pharmacol Biochem Behav
; 234: 173688, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38056696
18.
Preparation of Cell-Loaded Microbeads as Stable and Injectable Delivery Platforms for Tissue Engineering.
Biomimetics (Basel)
; 8(2)2023 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092407
19.
Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.
Genes Genomics
; 45(1): 13-21, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371492
20.
A new line method; A direct test in spinal muscular atrophy screening for DBS.
Mol Genet Genomic Med
; 11(12): e2270, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37614112