Dr. Öğr. Üyesi Dilek GÜNEŞ

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Evaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria.

Balci M. C., Karaca M., Gunes D., Korbeyli H. K., Selamioglu A., Gokcay G. F.

Nutrients , cilt.16, sa.19, 2024 (SCI-Expanded)

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Zübarioğlu T., Kıykım E., Köse E., Eminoğlu F. T., Teke Kısa P., Balcı M. C., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.142, sa.2, ss.1-10, 2024 (SCI-Expanded)

A very rare cause of hypertrygliseridemia in infancy: A novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene

Gunes D., Kalaycik Sengul O., Senturk L.

Journal of Pediatric Endocrinology and Metabolism , cilt.36, sa.7, ss.704-707, 2023 (SCI-Expanded)

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Gedikbaşı A., Toksoy G., Karaca M., Güleç Ç., Balcı M. C., Güneş D., et al.

FRONTIERS IN GENETICS , sa.14, ss.1-14, 2023 (SCI-Expanded)

A rare cause of hyperphenylalaninemia: Four cases from a single family with DNAJC12 deficiency

Gunes D., Senturk L.

Journal of Pediatric Endocrinology and Metabolism , 2023 (SCI-Expanded)

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype

Yildirim Z. N., Toksoy G., Uyguner O., Nayir A., Yavuz S., Altunoglu U., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.63, sa.1, 2020 (SCI-Expanded)

Predictive factors of drug-resistant epilepsy in children presenting under 2 years of age: experience of a tertiary center in Turkey.

Yildiz E., Gunes D., Bektas G., Uzunhan T. A., Tatli B., Caliskan M., et al.

Acta neurologica Belgica , cilt.118, sa.1, ss.71-75, 2018 (SCI-Expanded)

Diğer Dergilerde Yayınlanan Makaleler

The Importance of Diagnostic Tests in Delayed Type Beta-Lactam Allergy: A Case Report

Özçeker D., Güneş D., Umur Ö., Gençay A. G., Altınel Z. Ü., Güler N.

Asthma Allergy Immunology , sa.2, ss.93-97, 2014 (ESCI)

Farber disease: A clinical diagnosis

Ekici B., Kurkcu D., ÇALIŞKAN M. M.

JOURNAL OF PEDIATRIC NEUROSCIENCES , cilt.7, sa.2, ss.154-155, 2012 (ESCI)

Enfeksiyon Hastalıklarında Akut Faz Yanıtı.

Güneş D., Yılmaz İ.

Klinik Tıp Pediatri , cilt.2, sa.4, ss.1-8, 2010 (Hakemli Dergi)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Lysosomal Enzyme Activity Testing Process Quality Assurance During the Preanalytic- Analytic and Postanalytic Lab Phases

Gedikbaşı A., Kılıç Ş., Güneş D., Ak B., Çolak Aktaş Ü., Karaca M., et al.

24) SSIEM ANNUAL SUMPOSİUM, Porto, Portekiz, 2 - 06 Eylül 2024, ss.1

Congenital disorders of glycosylation: Clinical evaluation in 35 cases

Ak B., Kılıç Ş., Balcı M. C., Karaca M., Güneş D., Çolak Aktaş Ü., et al.

SSIEM ANNUAL SUMPOSİUM, Porto, Portekiz, 2 - 06 Eylül 2024, ss.1

BIOTINIDASE DEFICIENCY DURING NEWBORN SCREENING PROGRAM: EXPERIENCE WITH LATE DIAGNOSED CASES

Çolak Aktaş Ü., Kılıç Ş., Balcı M. C., Karaca M., Güneş D., Ak B., et al.

SSIEM ANNUAL SUMPOSİUM, Porto, Portekiz, 2 - 06 Eylül 2024, ss.1

Çocuklarda Tekrarlayan Rabdomiyolizin Nadir Bir Nedeni: Karnitin Palmitoil Transferaz 2 Eksikliği.

Güneş D.

6. Uluslararası Tıp Bilimleri ve Multidisipliner Yaklaşımlar Kongresi, İstanbul, Türkiye, 11 - 12 Mart 2023, ss.406

Bacak Ağrısı İle Başvuran Nadir Bir Doğumsal Metabolik Hastalık: Geç Başlangıçlı Pompe Hastalığı Olgusu

Güneş D., Edizer S.

3. Uluslararası Ege Sağlık Alanları Sempozyumu, İzmir, Türkiye, 7 - 08 Mart 2023, ss.51-52

Diagnosis utility of Whole Exome Sequencing in patients with suspected mitochondrial disease:the single center experience in Turkish population.

Gedikbaşı A., Toksoy G., Karaca M., Balcı M. C., Güleç Ç., Selamioğlu A., et al.

XIV International Congress of Inborn Errors of Metabolism, Sydney, Avustralya, 21 - 24 Kasım 2021, ss.227-228

Hyperphenylalaninemia without phenylketonuria and BH4 deficiency: DNAJC12 deficiency.

Güneş D., Şentürk L.

XIV International Congress of Inborn Errors of Metabolism, Sydney, Avustralya, 21 - 24 Kasım 2021, ss.274-275

Glutaric Aciduria Type 1: Clinical, Biochemical Findings and Outcome of Thirty Eight Patients From a Single Center.

Güneş D., Güneş S., Balcı M. C., Selamioğlu A., Demirkol M., Gökçay G. F.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Hollanda, 3 - 06 Eylül 2019, ss.164

Carnitine palmitoyltransferase II (CPT-II) deficiency: Phenotypic implications of the common mutation S113l.

Çöllü M., Güneş S., Güneş D., Balcı M. C., Demirkol M., Gökçay G. F.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Hollanda, 3 - 06 Eylül 2019, ss.195

Clinical Presentation and Outcome in 16 Patients with Cobalamin C Defect.

Gökçay G. F., Balcı M. C., Güneş D., Güneş S., Selamioğlu A., Demirkol M.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Hollanda, 3 - 06 Eylül 2019, ss.287

Homocystinuria Due To Cystathionine Beta-Synthase Deficiency: Long-Term Follow-up Results of Thirty Five Patients.

Güneş S., Güneş D., Balcı M. C., Selamioğlu A., Demirkol M., Gökçay G. F.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Hollanda, 3 - 06 Eylül 2019, ss.127

Psychiatric Disorders in Patients with Homocystinuria: Are they Really Frequent?

Güneş S., Seçkin M., Güneş D., Balcı M. C., Demirkol M., Gökçay G. F.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium , Rotterdam, Hollanda, 3 - 06 Eylül 2019, ss.127-128

Glycogen storage disease (GSD) type III: Clinical, biochemical, molecular features and outcome of 33 patients.

Güneş D., Korkmaz M., Güneş S., Balcı M. C., Demirkol M., Gökçay G. F.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Hollanda, 3 - 06 Eylül 2019, ss.343

Cerebrotendinous Xanthomatosis: A diagnosis not to be missed.

Odacılar Alpay A., Güneş S., Karaca M., Güneş D., Balcı M. C., Hanağası H. A., et al.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Hollanda, 3 - 06 Eylül 2019, ss.219

Carnitine Palmitoyl Transferase I Deficiency: Neurologic Involvement in the Course of the Disease.

Balcı M. C., Güneş S., Güneş D., Demirkol M., Gökçay G. F.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium , Rotterdam, Hollanda, 03 Eylül 2019 - 06 Aralık 2024, ss.193

Glycogen storage disease (GSD) type III: Anthropometric response to dietary treatment.

Hacıoğlu İ., Güneş D., Güneş S., Balcı M. C., Kozanoğlu T., Demirkol M., et al.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Hollanda, 3 - 06 Eylül 2019, ss.181

BH4 Treatment in Phenylketonuria: Experience with Thirty Five Patients from a Single Center.

Selamioğlu A., Balcı M. C., Güneş D., Güneş S., Gökçay G. F., Demirkol M.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Hollanda, 3 - 06 Eylül 2019, ss.115

Lysinuric protein intolerance: Follow-up in pregnancy.

Çöllü M., Güneş D., Güneş S., Balcı M. C., Hacıoğlu İ., Demirkol M., et al.

International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.537-538

Isobutyryl-coA dehydrogenase deficiency: a rare disease detectable by tandem mass spectrometry

Güneş D., İşeri Küskü Z. A., Güneş S., Balcı M. C., Demirkol M., Gökçay G. F.

International Inborn Errors of Metabolism and Nutrition Congress. , İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.535-536

Coenzym Q-10 deficiency due to COQ4 gene defect.

Güneş D., Güneş S., Balcı M. C., Demirkol M., Gökçay G. F.

International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.533-534

L2- Hydroxyglutaric aciduria: Clinical and biochemical evaluation of 33 patients from a single center.

Bayraktar Eltutan N. C., Güneş S., Güneş D., Balcı M. C., Demirkol M., Gökçay G. F.

International Inborn Errors of Metabolism and Nutrition Congress. , İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.295-298

Familial Hypercholesterolemia: Factors associated with diagnosis and age at diagnosis in children.

Kavrul Kayaalp G., Balcı M. C., Güneş D., Güneş S., Demirkol M., Gökçay G. F.

International Inborn Errors of Metabolism and Nutrition Congress. , İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.290-291

Nonketotic hyperglycinemia: Outcome of patients from a single center.

Güneş S., Güneş D., Balcı M. C., Demirkol M., Gökçay G. F.

International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.299-302

Citrin Deficiency: The efficacy of dietary treatment.

Dudaklı A., Balcı M. C., Güneş S., Güneş D., Kozanoğlu T., Hacıoğlu İ., et al.

International Inborn Errors of Metabolism and Nutrition Congress. , İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.303-308

Clinical and biochemical characterization of patients with 3-methylcrotonyl-CoA-carboxylase deficiency.

Güneş D., İşeri Küskü Z. A., Güneş S., Balcı M. C., Demirkol M., Gökçay G. F.

International Inborn Errors of Metabolism and Nutrition Congress. , İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.284-287

Glycogen storage disease type Ib and amyloidosis: A cause of Proteinuria.

Güneş D., Güneş S., Yürük Yıldırım Z. N., Balcı M. C., Demirkol M., Gökçay G. F.

International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.292-294

Glycogen storage disease type Ib and amyloidosis: Should we look out for this complication.

Güneş D., Uğurtay B., Güneş S., Çakar N. E., Balcı M. C., Yürük Yıldırım Z. N., et al.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Athens, Yunanistan, 4 - 07 Eylül 2018, ss.138-139

Mitochondrial 3-hydroxy-3-methylglutaryl-coA synthase deficiency: a potentially lethal disorder with a new mutation.

Güneş S., Aygün F., Çakar N. E., Güneş D., Balcı M. C., Yeşil G., et al.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Athens, Yunanistan, 4 - 07 Eylül 2018

Farber lipogranulomatosis: Response to Interleukin-6 receptor inhibitor treatment.

Çakar N. E., Karaca M., Güneş D., Güneş S., Ömeroğlu R. N., Demirkol M., et al.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium , Athens, Yunanistan, 4 - 07 Eylül 2018

Ethylmalonic encephalopathy: Can liver transplantation be a treatment option?

Balcı M. C., Güneş D., Güneş S., Çakar N. E., Güller D., Önal Z., et al.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Athens, Yunanistan, 4 - 07 Eylül 2018

Profound biotinidase deficiency: natural course of the disease and impact of treatment in adult patients.

Demirkol M., Çakar N. E., Güneş D., Karaca M., Balcı M. C., Türkoğlu Ü., et al.

Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Lyon, Fransa, 1 - 04 Eylül 2015, ss.164

Necrotizing Fasciitis after anorectal surgery: two case reports.

Somer A., Şık S. G., Sütçü M., Gün Soysal F., Güneş D., Salman T., et al.

8th World Congress of the World Society For Pediatric Infectious Diseases (WSPID), Cape-Town, Güney Afrika, 19 - 22 Kasım 2013, ss.1-2

Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Diğer Dergilerde Yayınlanan Makaleler

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Kitap & Kitap Bölümleri

Metrikler

Yayın

Atıf (WoS)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

Atıf (Scholar)

H-İndeks (Scholar)