Detalles de la búsqueda
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38012464
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38056696
3.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Front Public Health;
11: 1248260, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37822540
4.
A new line method; A direct test in spinal muscular atrophy screening for DBS.
Mol Genet Genomic Med;
11(12): e2270, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37614112
5.
Preparation of Cell-Loaded Microbeads as Stable and Injectable Delivery Platforms for Tissue Engineering.
Biomimetics (Basel);
8(2)2023 Apr 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37092407
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37029683
7.
Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey.
Pediatr Blood Cancer;
70(5): e30229, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36860090
8.
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Front Public Health;
11: 1079601, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36935719
9.
Digital distraction levels of university students in emergency remote teaching.
Educ Inf Technol (Dordr);
: 1-22, 2023 Jan 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36688215
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36371492
11.
Optimizing the Personalized Care for the Management of Rectal Cancer: A Consensus Statement.
Turk J Gastroenterol;
33(8): 627-663, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35993526
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35482075
13.
Primary antibody deficiencies in Turkey: molecular and clinical aspects.
Immunol Res;
70(1): 44-55, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34618307
14.
Correction to: Primary antibody deficiencies in Turkey: molecular and clinical aspects.
Immunol Res;
70(1): 134, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-34668146
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34951041
16.
Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results.
Front Public Health;
10: 1049349, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36684907
17.
Mutational landscape of SARS-CoV-2 genome in Turkey and impact of mutations on spike protein structure.
PLoS One;
16(12): e0260438, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34871297
18.
Gamma-irradiated SARS-CoV-2 vaccine candidate, OZG-38.61.3, confers protection from SARS-CoV-2 challenge in human ACEII-transgenic mice.
Sci Rep;
11(1): 15799, 2021 08 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34349145
19.
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
J Hum Genet;
66(12): 1145-1151, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34117373
20.
Prognostic evidence of LEF1 isoforms in childhood acute lymphoblastic leukemia.
Int J Lab Hematol;
43(5): 1093-1103, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-33844466