E-LIB Suche - Ergebnisse für: Bulut, Derya

1

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/..

2

Defining clinical subgroups and genotype–phenotype correlat..:

Staufner, Christian ; Peters, Bianca ; Wagner, Matias...
Genetics in Medicine. 22 (2020) 3 - p. 610-621 , 2020

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

3

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/..

4

Early onset alpha-mannosidosis: A Turkish case:

Mungan, Neslihan ; Yilmaz, Berna Seker ; Kor, Deniz...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S100-S101 , 2018

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

5

A case with Pallister-Killian syndrome misdiagnosed as muco..:

Mungan, Neslihan ; Kılavuz, Sebile ; Bulut, Derya...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S100 , 2018

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

6

Curcumin prevented human autocrine growth hormone (GH) sign..:

Coker-Gurkan, Ajda ; Bulut, Derya ; Genc, Recep...
Molecular Biology Reports. 46 (2018) 1 - p. 355-369 , 2018

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

7

Successful cardiovascular surgery experience and enzyme rep..:

Mungan, Neslihan ; Bulut, Derya ; Salih, Orhan...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S100 , 2017

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

8

Chanarin-Dorfman syndrome: A case report:

Mungan, Neslihan Onenli ; Tuncez, Ebru ; Yilmaz, Berna Seker...
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S87-S88 , 2016

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

9

A novel variation of gamt in cerebral creatine deficiency s..:

Ucar Koc, Habibe ; Bulut Derya, Fatma ; Gurbuz Bilginer, Berrak..
Genetika; ABI Genetika. 55 (2023) 1 - p. 415-426 , 2023

Link: https://doi.org/10.2298/..

10

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/..

11

Clinical, biochemical, and molecular insights into Cerebrot..:

Zubarioglu, Tanyel ; Kıykım, Ertuğrul ; Köse, Engin...
Molecular Genetics and Metabolism. 142 (2024) 2 - p. 108493 , 2024

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

12

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/..

13

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/..

14

Hematopoietic stem cell transplantation with reduced toxici..:

Ozek, Gülcihan ; Aksoylar, Serap ; Uçar, Sema Kalkan...
Pediatric Blood & Cancer. 70 (2023) 7 - p. , 2023

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

15

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/..