E-LIB Suche - Ergebnisse für: Deniz Kor

1

Early diagnostic clues of mucolipidosis type II: Significan..:

Burgac, Ezgi ; Kaplan, İrem ; Köseci, Burcu...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

2

Pediatric Cardiomyopathies from the Landscape of Inherited ..:

Demir, Fadli ; Topal, Ezgi ; Bulut, Fatma Derya...
Iranian Journal of Pediatrics. 34 (2024) 1 - p. , 2024

Link: https://doi.org/10.5812/..

3

Actions speak louder than words: Home visits and its effect..:

Bulut, Fatma Derya ; Kor, Deniz ; Kilavuz, Sebile...
Journal of Paediatrics and Child Health. 59 (2023) 11 - p. 1238-1243 , 2023

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

4

Perspectives of adult patients with lysosomal storage disea..:

Bulut, Fatma Derya ; Seydaoğlu, Gülşah ; Kor, Deniz...
Archives de Pédiatrie. 30 (2023) 7 - p. 450-454 , 2023

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

5

Expanding the phenotypic landscape of Gaucher disease type ..:

Bulut, Fatma Derya ; Kor, Deniz ; Kılavuz, Sebile...
European Journal of Medical Genetics. 66 (2023) 6 - p. 104764 , 2023

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

6

Taliglucerase-alfa experience with 34 Gaucher disease patie..:

Mungan, Neslihan Onenli ; Coker, Mahmut ; Yildirim, Gonca Kilic...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107252 , 2023

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

7

Investigating myelin oligodendrocyte glycoprotein antibodie..:

Oncel, Ibrahim ; Yousefi, Mohammadreza ; Inci, Asli...
Medical Hypotheses. 160 (2022) - p. 110781 , 2022

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

8

Three-Country Snapshot of Ornithine Transcarbamylase Defici..:

Seker Yilmaz, Berna ; Baruteau, Julien ; Arslan, Nur...
Life. 12 (2022) 11 - p. 1721 , 2022

Link: https://doi.org/10.3390/..

9

Sodium Valproate-induced Adult-onset Type 2 Citrullinemia:

Ateş, Başak Elçin ; Demir, Turgay ; Kor, Deniz..
Turkish Journal Of Neurology. 28 (2022) 3 - p. 197-199 , 2022

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

10

Pyridoxine-dependent Epilepsy caused by a Novel homozygous ..:

İpek, Rojan ; Çavdartepe, Büşra Eser ; Kor, Deniz.
Metabolic Brain Disease. 37 (2022) 8 - p. 3027-3032 , 2022

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

11

Evaluation of bone health in patients with mucopolysacchari..:

Kor, Deniz ; Bulut, Fatma Derya ; Kılavuz, Sebile...
Journal of Bone and Mineral Metabolism. 40 (2022) 3 - p. 498-507 , 2022

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

12

Morquio A syndrome and effect of enzyme replacement therapy..:

Kılavuz, Sebile ; Basaran, Sibel ; Kor, Deniz...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

13

More than tubular dysfunction: cystinosis and kidney outcom..:

Atmis, Bahriye ; K. Bayazit, Aysun ; Cevizli, Derya...
Journal of Nephrology. 35 (2021) 3 - p. 831-840 , 2021

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

14

Clinical and molecular findings in 37 Turkish patients with..:

ŞEKER YILMAZ, Berna ; KÖR, Deniz ; BULUT, Fatma Derya...
TURKISH JOURNAL OF MEDICAL SCIENCES. 51 (2021) 3 - p. 1220-1228 , 2021

Link: https://doi.org/10.3906/..

15

First case report of Gaucher disease and Graves' thyroiditi:

Mungan, Neslihan Önenli ; Kor, Deniz ; Kılavuz, Sebile..
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S122 , 2020

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