Yayınlar & Eserler

Yayın Ağı
Makaleler 18
Tümü (18)
SCI-E, SSCI, AHCI (17)
SCI-E, SSCI, AHCI, ESCI (18)
ESCI (1)
Scopus (18)

1. Epidemiology of type 1 diabetes mellitus in children and adolescents: A 50-year, single-center experience

KANDEMİR N., VURALLI KARAOĞLAN D., Ozon A., Gonc N., ARDIÇLI D., Jalilova L., et al.
JOURNAL OF DIABETES , cilt.16, sa.5, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

2. Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

YILDIZ Y., Ardıçlı D., GÖÇMEN R., YALNIZOĞLU D., Topçu M., Coşkun T., et al.
European Journal of Paediatric Neurology , cilt.49, ss.66-72, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

3. FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Mroczek M., Longman C., Farrugia M., Kapetanovic Garcia S., Ardicli D., Topaloglu H., et al.
EUROPEAN JOURNAL OF NEUROLOGY , cilt.29, ss.58-59, 2022 (SCI-Expanded, Scopus) identifier

4. FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Mroczek M., Longman C., Farrugia M. E., Garcia S. K., ARDIÇLI D., Topaloglu H., et al.
JOURNAL OF MEDICAL GENETICS , cilt.59, sa.11, ss.1069-1074, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

5. Epidemiology of type 1 diabetes in children and adolescents: a 50-year, single center experience

KANDEMİR N., VURALLI KARAOĞLAN D., ÖZÖN Z. A., GÖNÇ E. N., ARDIÇLI D., Jalilova L., et al.
HORMONE RESEARCH IN PAEDIATRICS , cilt.94, sa.SUPPL 1, ss.99, 2021 (SCI-Expanded, Scopus) identifier

6. Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay

ARDIÇLI D., Haliloglu G., GÖÇMEN R., GÜNBEY C., TOPÇU M.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , cilt.33, ss.94-98, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

7. Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials

Silwal A., Sarkozy A., Scoto M., Ridout D., Schmidt A., Laverty A., et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY , cilt.7, sa.11, ss.2288-2296, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

8. Long-term effects of vagus nerve stimulation in refractory pediatric epilepsy: A single-center experience

YALNIZOĞLU D., ARDIÇLI D., BİLGİNER B., KONUŞKAN B., Oguz K. K., AKALAN N., et al.
EPILEPSY & BEHAVIOR , cilt.110, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

9. A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

Ardicli D., Sarkozy A., Zaharieva I., Deshpande C., Bodi I., Siddiqui A., et al.
NEUROMUSCULAR DISORDERS , cilt.29, sa.6, ss.448-455, 2019 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

10. Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Sprute R., ARDIÇLI D., Oguz K. K., Malenica-Mandel A., Daimagueler H., Koy A., et al.
HUMAN GENOME VARIATION , cilt.6, 2019 (ESCI, Scopus) Creative Commons License identifier identifier identifier

11. Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience

ARDIÇLI D., Haliloglu G., ALİKAŞİFOĞLU M., Topaloglu H.
NEUROPEDIATRICS , cilt.50, sa.1, ss.41-45, 2019 (SCI-Expanded, Scopus) identifier identifier identifier

12. Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

Karakaya M., Storbeck M., Strathmann E. A., Delle Vedove A., Hoelker I., Altmueller J., et al.
HUMAN MUTATION , cilt.39, sa.9, ss.1284-1298, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

13. Neonatal-Onset Recurrent Guillain-Barre Syndrome-Like Disease: Clues for Inherited CD59 Deficiency

Ardicli D., TASKIRAN E. Z., KOŞUKCU C., Temucin Ç. M., OGUZ K. K., HALILOGLU G., et al.
NEUROPEDIATRICS , cilt.48, sa.6, ss.477-481, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

14. Reversible Hypertensive Myelopathy-The Spinal Cord Variant of Posterior Reversible Encephalopathy Syndrome

GÖÇMEN R., Ardicli D., Erarslan Y., DÜZOVA A., Anlar B.
NEUROPEDIATRICS , cilt.48, sa.2, ss.115-118, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

15. Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation

Ardicli D., GÖÇMEN R., TALİM B., SPRUTE R., Haliloglu G., ÇIRAK S., et al.
NEUROMUSCULAR DISORDERS , cilt.27, sa.3, ss.239-242, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

16. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

O'Grady G. L., Best H. A., Sztal T. E., Schartner V., Sanjuan-Vazquez T., Donkervoort S., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.99, sa.5, ss.1086-1105, 2016 (SCI-Expanded, Scopus) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

17. Cerebral Hyperperfusion in a Child with Stroke-Like Migraine Attacks after Radiation Therapy Syndrome

Ardicli D., GÖÇMEN R., Oguz K. K., VARAN A., YALNIZOĞLU D.
NEUROPEDIATRICS , cilt.47, sa.4, ss.259-262, 2016 (SCI-Expanded, Scopus) identifier identifier identifier

18. Clinical characteristics of type 1 diabetes over a 40 year period in Turkey: secular trend towards earlier age of onset

ARDIÇLI D., KANDEMİR N., ALİKAŞİFOĞLU A., Ozon A., Gonc N.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.27, ss.635-641, 2014 (SCI-Expanded, Scopus) identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 16

1. Identification and characterization of disease-causing genes in non-5q-SMA by next-generation sequencing technology: Lessons learned from NeurOmics study

Karakaya M., Storbeck M., Strathmann E., Delle Vedove A., Hoelker I., Altmueller J., et al.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1483-1484, (Özet Bildiri) identifier

2. Quantitative flow cytometry in the diagnosis of Collagen VI-related disorders: 3-year experience from a tertiary referral centre

Sarkozy A., Torelli S., Ala P., Ardicli D., Feng L., Mein R., et al.
120th Meeting of the British-Neuropathological-Society (BNS) / Developmental Neuropathology Symposium, London, Kanada, 6 - 08 Mart 2019, cilt.45, ss.27, (Özet Bildiri) identifier

3. Clinical characteristics and long-term course of selenoprotein N1 related myopathy in a large multi-centric cohort

Silwal A., Scoto M., Ridout D., Schmidt A., Laverty A., Henriques M., et al.
23rd International Annual Congress of the World-Muscle-Society (WMS), Mendoza, Arjantin, 2 - 06 Ekim 2018, cilt.28, (Özet Bildiri) identifier

4. A novel mutation in the MAGEL2 gene in a patient with arthrogryposis, severe global developmental delay and autistic features

Ardicli D., Zaharieva I., Phadke R., Scoto M. C., Borrel L. M., Laurie S., et al.
11th UK Neuromuscular Translational Research Conference, Cambridge, Kanada, 10 - 20 Nisan 2018, cilt.28, (Özet Bildiri) identifier

5. Correlation between flow cytometry, histology and genetic findings for the diagnosis of collagen VI-related myopathies

Ala P., Torelli S., Phadke R., Feng L., Main R., Ardicli D., et al.
11th UK Neuromuscular Translational Research Conference, Cambridge, Kanada, 10 - 20 Nisan 2018, cilt.28, (Özet Bildiri) identifier

6. Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic

Ardicli D., Nowak K., Haliloglu G., Goullee H., Davis M., Talim B., et al.
22nd International Annual Congress of the World-Muscle-Society (WMS), Saint-Lo, Fransa, 3 - 07 Ekim 2017, cilt.27, (Özet Bildiri) identifier

7. Neuroimaging signatures of alpha-dystroglycanopathies (ADG): A pictorial review

Ardicli D., GÖÇMEN R., ÇIRAK S., Karakaya M., Haliloglu G., TOPALOĞLU H. A.
21st International Congress of the World-Muscle-Society, Granada, Nikaragua, 4 - 08 Ekim 2016, cilt.26, (Özet Bildiri) identifier

8. The profile and natural history of congenital muscular dystrophies

Ardicli D., Genc H. M., SEYHAN K., Kahraman A., Akcil M., TALİM B., et al.
21st International Congress of the World-Muscle-Society, Granada, Nikaragua, 4 - 08 Ekim 2016, cilt.26, (Özet Bildiri) identifier

9. Solving a puzzle: Incidentally detected high creatine kinase level combined with a family history of cardiomyopathy and sudden unexplained death leading to diagnosis of LMNA mutation

Genc H. M., Ardicli D., Haliloglu G., Talim B., Alikasifoglu M., Topaloglu H.
21st International Congress of the World-Muscle-Society, Granada, Nikaragua, 4 - 08 Ekim 2016, cilt.26, (Özet Bildiri) identifier

10. Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation

Ardicli D., Gocmen R., Cirak S., Talim B., Haliloglu G., Topaloglu H.
21st International Congress of the World-Muscle-Society, Granada, Nikaragua, 4 - 08 Ekim 2016, cilt.26, (Özet Bildiri) identifier

11. Clinical use of plasma oxysterols for rapid diagnosis of Niemann Pick type C

LAY İ., ARDIÇLI D., Afshin S., AKBIYIK F., Serdaroğlu E., HALİLOĞLU V. G., et al.
SSIEM 2016, 6 - 09 Eylül 2016, cilt.39, (Özet Bildiri)

12. New biomarkers in the diagnosis of Niemann Pick Type C plasma levels of oxysterols

LAY İ., SAMADİ A., ARDIÇLI D., HALİLOĞLU V. G., YÜCE A., COŞKUN T., et al.
V. Congress of Lysosomal Disorders with International Participation, bODRUM, Türkiye, 14 - 17 Nisan 2016, (Tam Metin Bildiri)

13. Niemann-Pick disease type C in the newborn period: Reflections from 10 patients

YÜCE A., GÜMÜŞ E., Haliloglu G., KARHAN A. N., ARDIÇLI D., DEMİR H., et al.
12th Annual WORLD Symposium, California, Amerika Birleşik Devletleri, 29 Şubat - 04 Mart 2016, cilt.117, (Özet Bildiri) identifier

14. Clinical characteristics of MLD patients admitted to Hacettepe University in one year period

TOPÇU M., CEREN G., ARDIÇLI D., KARLI OĞUZ H. K.
Eur pediatric neurology society meeting 2015, 26 - 30 Mayıs 2015, (Özet Bildiri)

15. SMART syndrome A rare complication of cranial radiotherapy

ARDIÇLI D., GÖÇMEN R., VARAN A., YALNIZOĞLU D.
The European Paediatric Neurology Society (EPNS), 27 - 30 Mayıs 2015, cilt.19, ss.42, (Özet Bildiri)

16. LONG-TERM OUTCOME OF VAGUS NERVE STIMULATION IN CHILDHOOD ONSET REFRACTORY EPILEPSY

Konuskan B., Ardicli D., Bilginer B., Oguz K. K., Akalan N., Turanli G., et al.
31st International Epilepsy Congress, İstanbul, Türkiye, 5 - 09 Eylül 2015, cilt.56, ss.160, (Özet Bildiri) identifier
Metrikler

Yayın

34

Yayın (WoS)

30

Yayın (Scopus)

18

Atıf (WoS)

113

H-İndeks (WoS)

7

Atıf (Scopus)

65

H-İndeks (Scopus)

4

Açık Erişim

3
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