| 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 | 269 | 2006 |
| 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 | 152 | 2007 |
| 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 | 77 | 2006 |
| 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 | 71 | 2010 |
| 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 | 66 | 2009 |
| 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 | 55 | 2012 |
| 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 | 47 | 2015 |
| 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 | 43 | 2006 |
| 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 | 41 | 2014 |
| 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 | 35 | 2019 |
| 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 | 34 | 2006 |
| 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 | 28 | 2014 |
| 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 | 27 | 2007 |
| 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 | 21 | 2023 |
| 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 | 21 | 2018 |
| 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 | 21 | 2012 |
| 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 | 20 | 2014 |
| 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 | 17 | 2013 |
| 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 | 17 | 2006 |
| 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 | 17 | 2005 |
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