E-LIB Suche - Ergebnisse für: Görukmez, Orhan

1

NOTCH3 Variants in Patients with Suspected CADASIL:

Gorukmez, Orhan ; Gorukmez, Ozlem ; Topak, Ali...
Annals of Indian Academy of Neurology. 26 (2023) 4 - p. 484-490 , 2023

Link: https://doi.org/10.4103/..

2

Clinical exome sequencing findings in 1589 patients:

Gorukmez, Ozlem ; Gorukmez, Orhan ; Topak, Ali
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1557-1564 , 2023

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

3

WITHDRAWN: THE EFFECT OF NIVOLUMAB IN PEDIATRIC MALIGNANT T..:

GOK, Veysel ; AYDIN, Firdevs ; OZCAN, Alper...
Hematology, Transfusion and Cell Therapy. 43 (2021) - p. S65 , 2021

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

4

3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases ..:

Çakar, NafiyeEmel ; Görükmez, Orhan
Annals of Indian Academy of Neurology. 24 (2021) 3 - p. 372 , 2021

Link: https://doi.org/10.4103/..

5

Urinary stone and infection does not always mean a 'chicken..:

Köksoy, Adem Yasin ; Görükmez, Orhan
Pediatric Nephrology. , 2021

Link: https://doi.org/10.1007/..

6

A Novel Homozygous Mutation in the MYO5B Gene Associated Wi..:

Uyar Aksu, Nihal ; Görükmez, Orhan ; Görükmez, Özlem.
Cureus. , 2021

Link: https://doi.org/10.7759/..

7

Urinary stone and infection does not always mean a 'chicken..:

Köksoy, Adem Yasin ; Görükmez, Orhan
Pediatric Nephrology. , 2021

Link: https://doi.org/10.1007/..

8

Patients with cerebrotendinous xanthomatosis diagnosed with..:

Kısa, Pelin Teke ; Yildirim, Gonca Kilic ; Hismi, Burcu Ozturk...
Metabolic Brain Disease. 36 (2021) 6 - p. 1201-1211 , 2021

Link: https://doi.org/10.1007/..

9

The role of genetic mutations in intrahepatic cholestasis o..:

Aydın, Gültekin Adanaş ; Özgen, Gülten ; Görükmez, Orhan
Taiwanese Journal of Obstetrics and Gynecology. 59 (2020) 5 - p. 706-710 , 2020

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

10

Three different faces of TACI mutations:

Cekic, Sukru ; Cicek, Fatih ; Karali, Yasin...
Scandinavian Journal of Immunology. 91 (2020) 6 - p. , 2020

Link: https://doi.org/10.1111/..

11

May PEHO syndrome be a clinical entity associated with earl..:

Ekici, Arzu ; Yilmaz, lyas ; Görükmez, Orhan..
Annals of Indian Academy of Neurology. 23 (2020) 3 - p. 401 , 2020

Link: https://doi.org/10.4103/..

12

Lysinuric protein intolerance and HOIP deficiency in a boy:..:

Aliyeva, Lamiya ; Erdol, Sahin ; Gorukmez, Orhan...
Journal of Biotechnology. 280 (2018) - p. S20 , 2018

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

13

Investigation of MEFV gene polymorphisms (G138G and A165A) ..:

Öksuz, Mustafa Ferhat ; Karkucak, Mutlu ; Görukmez, Orhan...
Revista Brasileira de Reumatologia (English Edition). 57 (2017) 6 - p. 501-506 , 2017

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

14

Delayed Puberty and Gonadal Failure in Patients with HAX1 M..:

Cekic, Sukru ; Saglam, Halil ; Gorukmez, Orhan...
Journal of Clinical Immunology. 37 (2017) 6 - p. 524-528 , 2017

Link: https://doi.org/10.1007/..

15

Investigação de polimorfismos no gene MEFV (G138G e A165A) ..:

Öksuz, Mustafa Ferhat ; Karkucak, Mutlu ; Görukmez, Orhan...
Revista Brasileira de Reumatologia. 57 (2017) 6 - p. 501-506 , 2017

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