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Burcu Öztürk Hişmi
Burcu Öztürk Hişmi
Marmara University School of Medicine
Email verificata su marmara.edu.tr
Titolo
Citata da
Citata da
Anno
Antibiotic resistance of urinary tract pathogens and evaluation of empirical treatment in Turkish children with urinary tract infections
S Yüksel, B Öztürk, A Kavaz, ZB Özçakar, B Acar, H Güriz, D Aysev, ...
International journal of antimicrobial agents 28 (5), 413-416, 2006
2682006
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia
M Tekin, BÖ Hişmi, S Fitoz, H Özdağ, FB Cengiz, A Sırmacı, I Aslan, ...
The American Journal of Human Genetics 80 (2), 338-344, 2007
1452007
Mechanical ventilation in children
T Kendirli, A Kavaz, Z Yalaki, BO Hişmi, E Derelli, E İnce
The Turkish journal of pediatrics 48 (4), 323-327, 2006
822006
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss
A Sırmacı, S Erbek, J Price, M Huang, D Duman, FB Cengiz, G Bademci, ...
The American Journal of Human Genetics 86 (5), 797-804, 2010
702010
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations
A Sırmacı, D Duman, H Öztürkmen-Akay, S Erbek, A İncesulu, ...
International journal of pediatric otorhinolaryngology 73 (5), 699-705, 2009
622009
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism
M Gokce, O Unal, B Hismi, F Gumruk, T Coskun, G Balta, S Unal, M Cetin, ...
Pediatric hematology and oncology 29 (1), 92-98, 2012
532012
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening
M Karaca, RK Özgül, Ö Ünal, D Yücel-Yılmaz, M Kılıç, B Hişmi, A Tokatlı, ...
European journal of pediatrics 174, 1077-1084, 2015
462015
Clinical improvement with infliximab in a child with amyloidosis secondary to familial Mediterranean fever
S Yüksel, F Yalçınkaya, B Acar, ZB Özçakar, B Öztürk, M Ekim
Rheumatology 45 (10), 1307-1308, 2006
432006
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish …
M Karaca, B Hismi, RK Ozgul, S Karaca, DY Yilmaz, T Coskun, HS Sivri, ...
Gene 534 (2), 197-203, 2014
382014
Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes
BÖ Hişmi, ST Yılmaz, A İncesulu, M Tekin
International journal of pediatric otorhinolaryngology 70 (10), 1687-1694, 2006
342006
Neuropsychological attributes of urea cycle disorders: a systematic review of the literature
SE Waisbren, AK Stefanatos, TMY Kok, B Ozturk‐Hismi
Journal of Inherited Metabolic Disease 42 (6), 1176-1191, 2019
332019
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
RK Ozgul, M Karaca, M Kilic, O Kucuk, D Yucel-Yilmaz, O Unal, B Hismi, ...
European journal of medical genetics 57 (10), 596-601, 2014
272014
Renal replacement therapies in pediatric intensive care patients: experiences of one center in Turkey
T Kendirli, M Ekim, ZB ÖZÇAKAR, S Yüksel, B Acar, B ÖZTÜRK‐HIİŞMİ, ...
Pediatrics International 49 (3), 345-348, 2007
252007
Severe vitamin B12 deficiency with pancytopenia, hepatosplenomegaly and leukoerythroblastosis in two Syrian refugee infants: a challenge to differentiate from acute leukaemia
B Belen, BO Hismi, U Kocak
Case Reports 2014, bcr2014203742, 2014
212014
Effect of blood phenylalanine levels on oxidative stress in classical phenylketonuric patients
B Kumru, DS Kaplan, B Oztürk Hismi, H Celik
Cellular and molecular neurobiology 38, 1033-1038, 2018
202018
A rare galactosemia complication: vitreous hemorrhage
S Takci, S Kadayifcilar, T Coskun, S Yigit, B Hismi
JIMD Reports-Case and Research Reports, 2012/2, 89-93, 2012
202012
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
N Himmelreich, M Bertoldi, M Alfadhel, MA Alghamdi, Y Anikster, X Bao, ...
Molecular Genetics and Metabolism 139 (3), 107624, 2023
182023
Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance
A Güzel-Ozantürk, RK Özgül, Ö Ünal, B Hişmi, Hİ Aydın, S Sivri, A Tokatlı, ...
Gene 521 (2), 293-295, 2013
172013
A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus
M Tekin, BÖ Hişmi, S Fitoz, F Yalçınkaya, M Ekim, A Kansu, M Ertem, ...
American journal of medical genetics Part A 140 (13), 1472-1475, 2006
172006
Seronegative spondyloarthropathy associated with Takayasu's arteritis in a child
B Acar, F Yalcinkaya, B Oztürk, S Yüksel, ZB Ozcakar, S Fitöz, ...
Clinical and experimental rheumatology 23 (2), 278-279, 2005
172005
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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