| Variants in the oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization GL O’grady, HA Best, TE Sztal, V Schartner, M Sanjuan-Vazquez, ... The American Journal of Human Genetics 99 (5), 1086-1105, 2016 | 58 | 2016 |
| Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies M Karakaya, M Storbeck, EA Strathmann, A Delle Vedove, I Hölker, ... Human mutation 39 (9), 1284-1298, 2018 | 45 | 2018 |
| Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature R Sprute, D Ardicli, KK Oguz, A Malenica-Mandel, HS Daimagüler, A Koy, ... Human Genome Variation 6 (1), 24, 2019 | 29 | 2019 |
| Clinical characteristics of type 1 diabetes over a 40 year period in Turkey: secular trend towards earlier age of onset D Ardicli, N Kandemir, A Alikasifoglu, A Ozon, N Gonc Journal of Pediatric Endocrinology and Metabolism 27 (7-8), 635-641, 2014 | 29 | 2014 |
| Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials A Silwal, A Sarkozy, M Scoto, D Ridout, A Schmidt, A Laverty, ... Annals of Clinical and Translational Neurology 7 (11), 2288-2296, 2020 | 20 | 2020 |
| Neonatal-onset recurrent Guillain–Barré syndrome-like disease: clues for inherited CD59 deficiency D Ardicli, EZ Taskiran, C Kosukcu, C Temucin, KK Oguz, G Haliloglu, ... Neuropediatrics 48 (06), 477-481, 2017 | 20 | 2017 |
| Long-term effects of vagus nerve stimulation in refractory pediatric epilepsy: a single-center experience D Yalnizoglu, D Ardicli, B Bilginer, B Konuskan, KK Oguz, N Akalan, ... Epilepsy & Behavior 110, 107147, 2020 | 17 | 2020 |
| Vitamin D-deficient rickets mimicking ankylosing spondylitis in an adolescent girl H Demirbilek, D Aydoğdu, A Ozön The Turkish Journal of Pediatrics 54 (2), 177-179, 2012 | 17 | 2012 |
| Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation D Ardicli, R Gocmen, B Talim, R Sprute, G Haliloglu, S Cirak, H Topaloglu Neuromuscular Disorders 27 (3), 239-242, 2017 | 12 | 2017 |
| Recurrent demyelinating episodes as sole manifestation of inherited CD59 deficiency I Solmaz, ES Aytekin, D Çağdaş, C Tan, I Tezcan, R Gocmen, G Haliloglu, ... Neuropediatrics 51 (03), 206-210, 2020 | 9 | 2020 |
| A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement D Ardicli, A Sarkozy, I Zaharieva, C Deshpande, I Bodi, A Siddiqui, ... Neuromuscular Disorders 29 (6), 448-455, 2019 | 9 | 2019 |
| Diagnostic pathway to nonsense mutation dystrophinopathy: a tertiary-center, retrospective experience D Ardıçlı, G Haliloğlu, M Alikaşifoğlu, H Topaloğlu Neuropediatrics 50 (01), 041-045, 2019 | 8 | 2019 |
| High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy B Çavdarlı, ÖY Köken, SBA Satılmış, Ş Bilen, D Ardıçlı, AC Ceylan, ... Annals of human genetics 87 (3), 104-114, 2023 | 5 | 2023 |
| Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay D Ardicli, G Haliloglu, R Gocmen, C Gunbey, M Topcu European Journal of Paediatric Neurology 33, 94-98, 2021 | 5 | 2021 |
| Dirençli epilepside düşük glisemik indeksli diyet tedavisi: Olgu sunumu F Ilgaz, C Günbey, D Ardıçlı, D Yalnızoğlu, M Topçu Beslenme ve Diyet Dergisi 47 (2), 108-113, 2019 | 3 | 2019 |
| Reversible Hypertensive Myelopathy—The Spinal Cord Variant of Posterior Reversible Encephalopathy Syndrome R Gocmen, D Ardicli, Y Erarslan, A Duzova, B Anlar Neuropediatrics 48 (02), 115-118, 2017 | 3 | 2017 |
| Cerebral hyperperfusion in a child with stroke-like migraine attacks after radiation therapy syndrome D Ardicli, R Gocmen, KK Oguz, A Varan, D Yalnizoglu Neuropediatrics, 259-262, 2016 | 3 | 2016 |
| FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum M Mroczek, C Longman, ME Farrugia, SK Garcia, D Ardicli, H Topaloglu, ... Journal of medical genetics 59 (11), 1069-1074, 2022 | 2 | 2022 |
| An Oxidative Stress Marker in Pediatric Migraine Patients: Dynamic Thiol-Disulfide Homeostasis D CENSUR, D YILMAZ, D ARDIÇLI, H CENSUR, AÇ TAYFUR, E Özcan Türkiye Çocuk Hastalıkları Dergisi 17 (1), 1-6, 2023 | 1 | 2023 |
| A rare cause of developmental delay and epilepsy in two siblings: Asparagine synthetase deficiency M Topcu, D Ardicli, A Malenica, T Coskun, KK Oguz, K Becker, S Cirak European Journal of Paediatric Neurology 21, e126-e127, 2017 | 1 | 2017 |
