E-LIB Suche - Ergebnisse für: Hismi, Burcu Ozturk

1

Experience with cascade screening: A comprehensive family p..:

Kisa, Pelin Teke ; Hismi, Burcu Ozturk ; Kocabey, Mehmet...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

2

A surprising cause of proteinuria: Questions:

Demir, Belde Kasap ; Kanık, Ali ; Köse, Melis..
Pediatric Nephrology. 37 (2022) 5 - p. 1031-1032 , 2022

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

3

A surprising cause of proteinuria: Answers:

Demir, Belde Kasap ; Kanık, Ali ; Köse, Melis..
Pediatric Nephrology. 37 (2022) 5 - p. 1033-1039 , 2022

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

4

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/..

5

Alkaptonuria in Turkey: Clinical and molecular characterist..:

Kisa, Pelin Teke ; Gunduz, Mehmet ; Dorum, Sevil...
European Journal of Medical Genetics. 64 (2021) 5 - p. 104197 , 2021

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

6

An unusual cause of cavitating leukoencephalopathy: ethylma..:

Cavusoglu, Dilek ; Hismi, Burcu Ozturk ; Dundar, Nihal Olgac...
Acta Neurologica Belgica. 118 (2018) 2 - p. 309-312 , 2018

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

7

Investigation of total oxidant status, antioxidant status a..:

Hişmi, Burcu Öztürk ; Kumru, Burcu ; Çelik, Hakim.
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S104-S105 , 2017

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

8

Recurrence of carbamoyl phosphate synthetase 1 (CPS1) defic..:

Hu, Liyan ; Diez-Fernandez, Carmen ; Rüfenacht, Véronique...
Molecular Genetics and Metabolism. 113 (2014) 4 - p. 267-273 , 2014

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

9

Vanishing White Matter With Hepatomegaly and Hypertriglycer..:

Unal, Ozlem ; Ozgen, Burce ; Orhan, Diclehan...
Journal of Child Neurology. 28 (2012) 11 - p. 1509-1512 , 2012

Link: https://doi.org/10.1177/..

10

PP-259. Early diagnosis of homocystinuria in a newborn with..:

Onay, Ozge Surmeli ; Hısmı, Burcu Ozturk ; Takcı, Sahin..
Early Human Development. 86 (2010) - p. S120 , 2010

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

11

Effects of GJB2 genotypes on the audiological phenotype: Va..:

Hişmi, Burcu Öztürk ; Yılmaz, Suna Tokgöz ; İncesulu, Armağan.
International Journal of Pediatric Otorhinolaryngology. 70 (2006) 10 - p. 1687-1694 , 2006

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

12

A germline PTEN mutation with manifestations of prenatal on..:

Tekin, Mustafa ; Hişmi, Burcu Öztürk ; Fitoz, Suat...
American Journal of Medical Genetics Part A. 140A (2006) 13 - p. 1472-1475 , 2006

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

13

Mucopolysaccharidosis type 4 (Morquio syndrome): A case rep..:

Akçay, Seçkin ; Akagündüz, Fırat ; Ölmez, Osman..
JCEM Case Reports. 1 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

14

Improvement in hypertrophic cardiomyopathy after using a hi..:

Kumru Akin, Burcu ; Ozturk Hismi, Burcu ; Daly, Anne
Molecular Genetics and Metabolism Reports. 32 (2022) - p. 100904 , 2022

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

15

Effect of Blood Phenylalanine Levels on Oxidative Stress in..:

Kumru, Burcu ; Kaplan, Davut Sinan ; Oztürk Hismi, Burcu.
Cellular and Molecular Neurobiology. 38 (2017) 5 - p. 1033-1038 , 2017

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