E-LIB Suche - Ergebnisse für: TALİM, Beril

1

Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR ..:

Cavusoglu, Dilek ; Talim, Beril ; Ekinci, Gazanfer.
Journal of Neuromuscular Diseases. 11 (2024) 4 - p. 883-887 , 2024

Link: https://doi.org/10.3233/..

2

Biallelic truncating variants in PACSIN3 cause childhood-on..:

Distelmaier, Felix ; Sezer, Abdullah ; Helm, Christina...
Brain. 147 (2024) 7 - p. e45-e49 , 2024

Link: https://doi.org/10.1093/..

3

Further expanding the phenotype of anti-Ku antibody associa..:

Batu, Ezgi Deniz ; Şener, Seher ; Haliloğlu, Göknur...
Neuromuscular Disorders. 40 (2024) - p. 7-15 , 2024

Link: https://doi.org/10.1016/..

4

Early-onset juvenile dermatomyositis: A tertiary referral c..:

Sener, Seher ; Basaran, Ozge ; Batu, Ezgi Deniz...
Seminars in Arthritis and Rheumatism. 58 (2023) - p. 152133 , 2023

Link: https://doi.org/10.1016/..

5

Alterations in insulin‐like growth factor system in spinal ..:

Kaymaz, Ayse Yesbek ; Bal, Sevgi Kostel ; Bora, Gamze...
Muscle & Nerve. 66 (2022) 5 - p. 631-638 , 2022

Link: https://doi.org/10.1002/..

6

A novel bi-allelic variant in the SDHB gene causes a severe..:

Ece Solmaz, Asli ; Pariltay, Erhan ; Talim, Beril.
Clinical Neurology and Neurosurgery. 212 (2022) - p. 107039 , 2022

Link: https://doi.org/10.1016/..

7

Effect of Hyperbaric Oxygen on Hypoxic-ischemic Damage in C..:

İbrahim ÖNCEL ; Selman KESİCİ ; Şeref Selçuk KILIÇ...
https://jag.journalagent.com/z4/download_fulltext.asp?pdir=forbes&un=FJM-75046. , 2022

Link: https://doi.org/10.4274/..

8

Reduced mitochondrial fission and impaired energy metabolis..:

Aksu-Menges, Evrim ; Eylem, Cemil Can ; Nemutlu, Emirhan...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

9

Diagnostic yield of muscle biopsy in infants: Retrospective..:

Genç, Hülya MaraÅŸ ; Güven, Alev ; Talim, Beril
Clinical Neuropathology. 40 (2021) 9 - p. 286-291 , 2021

Link: https://doi.org/10.5414/..

10

Clinical and genetic characterization of PYROXD1‐related my..:

Daimagüler, Hülya‐Sevcan ; Akpulat, Ugur ; Özdemir, Özkan...
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1678-1690 , 2021

Link: https://doi.org/10.1002/..

11

Knockout of zebrafish desmin genes does not cause skeletal ..:

Kayman Kürekçi, Gülsüm ; Kural Mangit, Ecem ; Koyunlar, Cansu...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

12

Clinical features, muscle biopsy scores, myositis specific ..:

Sag, Erdal ; Demir, Selcan ; Bilginer, Yelda...
Seminars in Arthritis and Rheumatism. 51 (2021) 1 - p. 95-100 , 2021

Link: https://doi.org/10.1016/..

13

Loss of C2orf69 defines a fatal autoinflammatory syndrome i..:

Wong, Hui Hui ; Seet, Sze Hwee ; Maier, Michael...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8322923/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Knockout of zebrafish desmin genes does not cause skeletal ..:

Kurekci, Gulsum Kayman ; Mangit, Ecem Kural ; Koyunlar, Cansu...
https://aperta.ulakbim.gov.tr/record/235264. , 2021

Link: https://aperta.ulakbim.g..

15

Clinical and genetic characterization of PYROXD1-related my..:

Daimagueler, Huelya-Sevcan ; Cirak, Sebahattin ; Nuernberg, Peter...
850bba8e-864a-4d23-b968-e3d12499bfc5. , 2021

Link: https://doi.org/10.1002/..