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Hişmi, Burcu Öztürk
25
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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/..
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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/..
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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
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/..
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5
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/..
?
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/..
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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/..
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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/..
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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/..
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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/..
1-15