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Hişmi, Burcu Öztürk
63  results:
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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

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/..
 
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3

Corrigendum to: Prevalence of DDC genotypes in patients wit..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism.  139 (2023)  4 - p. 107647 , 2023
Link: https://doi.org/10.1016/..
 
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4

Prevalence of DDC genotypes in patients with aromatic L-ami..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism.  139 (2023)  3 - p. 107624 , 2023
Link: https://doi.org/10.1016/..
 
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5

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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6

Prevalence of DDC genotypes in patients with aromatic L-ami..:

ÖZTÜRK HİŞMİ, BURCU
Molecular Genetics and Metabolism.  , 2023
Link: https://hdl.handle.net/1..
 
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7

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/..
 
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8

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/..
 
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9

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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10

Her yönüyle biyotinidaz eksikliği:

ÖZTÜRK HİŞMİ, BURCU
9. Marmara Pediatri Kongresi Uluslararası Katılımlı.  , 2022
Link: https://hdl.handle.net/1..
 
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11

Three-Country Snapshot of Ornithine Transcarbamylase Defici..:

Cano, Aline ; Chronopoulou, Efstathia ; YILDIZ, YILMAZ...
90cc7647-de69-4ac4-9adc-6d340b9d6f77.  , 2022
Link: https://doi.org/10.3390/..
 
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12

Three-country snapshot of ornithine transcarbamylase defici..:

ÖZTÜRK HİŞMİ, BURCU
LIFE-BASEL.  , 2022
Link: https://hdl.handle.net/1..
 
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13

Three-Country Snapshot of Ornithine Transcarbamylase Defici..:

İNCİ, ASLI ; Sreekantam, Srividya ; ARSLAN, NUR...
90cc7647-de69-4ac4-9adc-6d340b9d6f77.  , 2022
Link: https://doi.org/10.3390/..
 
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14

Improvement in hypertrophic cardiomyopathy after using a hi..:

ÖZTÜRK HİŞMİ, BURCU
MOLECULAR GENETICS AND METABOLISM REPORTS.  , 2022
Link: https://hdl.handle.net/1..
 
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15

Three-Country Snapshot of Ornithine Transcarbamylase Defici..:

Berna Seker Yilmaz ; Julien Baruteau ; Nur Arslan...
https://www.mdpi.com/2075-1729/12/11/1721.  , 2022
Link: https://doi.org/10.3390/..
 
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