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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.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36849695
3.
Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration.
Int J Neurosci
; : 1-6, 2023 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37099669
4.
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
5.
[Investigating of Relation Between Fibromyalgia Syndrome and Intestinal Microbiota]. / Fibromiyalji Sendromu ile Bagirsak Mikrobiyotasi Arasindaki Iliskinin Arastirilmasi.
Mikrobiyol Bul
; 55(2): 146-160, 2021 Apr.
Artículo
en Turco
| MEDLINE | ID: mdl-33882648
6.
Calcium homeostasis in cisplatin resistant epithelial ovarian cancer.
Gen Physiol Biophys
; 38(4): 353-363, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31241042
7.
Effects of Methylprednisolone in the Treatment of Spinal Cord Injuries by Evaluation of microRNA-21: An Experimental Study.
J Neurol Surg A Cent Eur Neurosurg
; 84(3): 240-246, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35439827
8.
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.
Brain Dev
; 44(6): 391-400, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35379526
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34237751
10.
The utility of serum miRNA-93 and miRNA-191 levels for determining injury severity in adults with multiple blunt trauma.
Ulus Travma Acil Cerrahi Derg
; 27(6): 631-638, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34710223
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