Detalhe da pesquisa
1.
Psychedelic therapy in depression and substance use disorders.
Eur J Neurosci
; 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38773750
2.
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
3.
Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Neurol Sci
; 44(7): 2527-2540, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849695
4.
Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.
Int J Neurosci
; : 1-6, 2023 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269313
5.
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.
J Hum Genet
; 67(5): 279-284, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34983975
6.
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
Neurocase
; 28(6): 488-492, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36787709
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.
Investigating differential miRNA expression profiling using serum and urine specimens for detecting potential biomarkers for early prostate cancer diagnosis
Turk J Med Sci
; 51(4): 1764-1774, 2021 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33550766
9.
Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.
Neuropediatrics
; 51(6): 430-434, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369837
10.
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
11.
Microencapsulated parathyroid allotransplantation in the omental tissue.
Artif Organs
; 43(10): 1022-1027, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31013358
12.
Fresh tissue parathyroid allotransplantation with short-term immunosuppression: 1-year follow-up.
Clin Transplant
; 31(11)2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29044732
13.
Carl von Linné: The Development of the Idea of Binomial Nomenclature.
J Med Biogr
; 32(1): 51-56, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38450482
14.
An Alternative and Up-To-Date Recommendation for a Proper Site for Parathyroid Transplantation: The Omentum.
Exp Clin Transplant
; 22(Suppl 1): 102-109, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385383
15.
The Challenge of Preoperative Panel Reactive Antibody Positivity in Parathyroid Transplantation.
Exp Clin Transplant
; 22(Suppl 1): 233-242, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385404
16.
Gene Teams are on the Field: Evaluation of Variants in Gene-Networks Using High Dimensional Modelling.
IEEE/ACM Trans Comput Biol Bioinform
; 20(5): 2959-2969, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402183
17.
HLA Class I Expression Changes in Different Types of Cultured Parathyroid Cells.
Exp Clin Transplant
; 20(9): 854-862, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30995898
18.
HLA-DR, -DP, -DQ expression status of parathyroid tissue as a potential parathyroid donor selection criteria and review of literature.
Hum Immunol
; 83(2): 113-118, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34955228
19.
Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results.
Front Public Health
; 10: 1049349, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36684907
20.
Gene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day.
Public Health Genomics
; 24(5-6): 207-217, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237751