| Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies T Opladen, E López-Laso, E Cortès-Saladelafont, TS Pearson, HS Sivri, ... Orphanet Journal of Rare Diseases 15, 1-30, 2020 | 108 | 2020 |
| Periostin is temporally expressed as an extracellular matrix component in skeletal muscle regeneration and differentiation C Özdemir, U Akpulat, P Sharafi, Y Yıldız, İ Onbaşılar, Ç Kocaefe Gene 553 (2), 130-139, 2014 | 52 | 2014 |
| Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines O Kuseyri Hübschmann, G Horvath, E Cortès-Saladelafont, Y Yıldız, ... Nature Communications 12 (1), 1-15, 2021 | 33 | 2021 |
| Inborn errors of metabolism in the differential diagnosis of fatty liver disease Y Yıldız, HS Sivri Turkish Journal of Gastroenterology 31 (1), 3-16, 2020 | 24 | 2020 |
| Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment Y Yildiz, E Pektas, A Tokatli, G Haliloglu Neuropediatrics 48 (01), 049-052, 2017 | 24 | 2017 |
| Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency Y Yıldız, B Talim, G Haliloglu, H Topaloglu, Z Akçören, A Dursun, HS Sivri, ... Pediatric neurology 99, 69-75, 2019 | 23 | 2019 |
| Oral health status in patients with mucopolysaccharidoses E Ballıkaya, PS Eymirli, Y Yıldız, N Avcu, HS Sivri, M Uzamış-Tekçiçek Turk J Pediatr 60, 400-406, 2018 | 19 | 2018 |
| Invisible burden of COVID-19: enzyme replacement therapy disruptions AB Kahraman, Y Yıldız, K Çıkı, HT Akar, İ Erdal, A Dursun, A Tokatlı, ... Journal of Pediatric Endocrinology and Metabolism, 2021 | 17 | 2021 |
| Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management Y Yıldız, HS Sivri European journal of pediatrics 178 (7), 1005-1011, 2019 | 17 | 2019 |
| Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe Y Yıldız, M Arslan, G Çelik, ÇS Kasapkara, S Ceylaner, A Dursun, HS Sivri, ... American Journal of Medical Genetics Part A 182 (4), 705-712, 2020 | 14 | 2020 |
| Cognitive and behavioral impairment in mild hyperphenylalaninemia SG Evinç, E Pektaş, D Foto-Özdemir, Y Yıldız, Y Karaboncuk, ... The Turkish Journal of Pediatrics 60 (6), 2018 | 14 | 2018 |
| Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy Y Yıldız, RKJ Olsen, HS Sivri, Z Akçören, HH Nygaard, A Tokatlı Neuromuscular Disorders 28 (9), 787-790, 2018 | 14 | 2018 |
| Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients O Kuseyri Hübschmann, A Mohr, J Friedman, F Manti, G Horvath, ... Journal of Inherited Metabolic Disease, 2021 | 13 | 2021 |
| Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder. Y Yıldız, A Dursun, A Tokatlı, T Coşkun, HS Sivri Turk J Pediatr 58 (1), 94-96, 2016 | 13 | 2016 |
| Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings Y Yıldız, C Koşukçu, D Aygün, M Akçaboy, FZ Öztek Çelebi, Y Taşcı Yıldız, ... Clinical Genetics, 2021 | 12 | 2021 |
| Oral health status of children with phenylketonuria E Ballıkaya, Y Yıldız, HS Sivri, A Tokatlı, A Dursun, S Ölmez, T Coşkun, ... Journal of Pediatric Endocrinology and Metabolism, 2020 | 12 | 2020 |
| Localized acute generalized exanthematous pustulosis with amoxicillin and clavulanic acid A Özkaya-Parakay, D Azkur, A Kara, Y Yildiz, D Orhan, AB Cengiz, ... The Turkish journal of pediatrics 53 (2), 229, 2011 | 11 | 2011 |
| Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate … M Scala, SB Wortmann, N Kaya, MD Stellingwerff, A Pistorio, E Glamuzina, ... Human Mutation, 2022 | 9 | 2022 |
| Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder Y Yıldız, R Göçmen, A Yaramış, T Coşkun, G Haliloğlu Pediatrics 146 (5), e20193460, 2020 | 9 | 2020 |
| Hyperinsulinism may be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency D Vuralli, Y Yildiz, A Ozon, A Dursun, N Gonc, A Tokatli, HS Sivri, ... Journal of Clinical Research in Pediatric Endocrinology, 2022 | 8 | 2022 |
Çetin KocaefeHacettepe University School of MedicineVerified email at hacettepe.edu.tr
