Doç. Dr. YILMAZ YILDIZ

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome

ENSERT CİHAN C. K., AKAR H. T., Ylldlz Y., SOĞUKPINAR M., ÜTİNE G. E., ÇELİK H. T.

Molecular Syndromology , cilt.15, sa.1, ss.83-88, 2024 (SCI-Expanded)

Evaluation of Exposure to Bisphenol A, Bisphenol F, and Phthalates in Patients with Phenylketonuria and Its Differences According to Dietary Status

Erdal I., YILDIZ Y., YALÇIN S. S., YİRÜN A., DEMİREL G., ERKEKOĞLU Ü. P.

NUTRIENTS , sa.18, 2024 (SCI-Expanded)

Membranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist.

Baltu D., Serin O., Aksu T., Hızarcıoğlu Gülşen H., Orhan D., Yıldız Y., et al.

Journal of nephrology , 2024 (SCI-Expanded)

Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.

Erdal İ., Yıldız Y., Kuseyri Hübschmann O., Haas D., Günbey C., Ertuğrul İ., et al.

Journal of pediatric endocrinology & metabolism : JPEM , 2024 (SCI-Expanded)

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

Zubarioglu 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.108493, 2024 (SCI-Expanded)

Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study

KÖSE E., KASAPKARA Ç. S., İNCİ A., YILDIZ Y., Sürücü Kara İ., Kahraman A. B., et al.

European Journal of Medical Genetics , cilt.68, 2024 (SCI-Expanded)

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Julia-Palacios N. A., Kuseyri Hübschmann O., Olivella M., Pons R., Horvath G., Lücke T., et al.

Journal of inherited metabolic disease , 2024 (SCI-Expanded)

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)

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

Aldrian D., Waldner B., Vogel G. F., El-Gharbawy A. H., McKiernan P., Vockley J., et al.

Journal of inherited metabolic disease , cilt.47, sa.2, ss.220-229, 2024 (SCI-Expanded)

Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey

Ersak A. Ş., Çak H. T., YILDIZ Y., Çavdar M., Tunç S., ÖZER N., et al.

Molecular Genetics and Metabolism , cilt.141, sa.1, 2024 (SCI-Expanded)

Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy

ÇIKI K., YILDIZ Y., KAHRAMAN A. B., ÖZGÜL R. K., COŞKUN T., DURSUN A., et al.

Molecular Genetics and Metabolism , cilt.140, sa.3, 2023 (SCI-Expanded)

A novel mutation in ATP13A2 gene in a patient with complicated hereditary spastic paraplegia accompanied by tubulopathy.

Inan B., Azman F., Aktas D., Yildiz Y., Saygi S.

Acta neurologica Belgica , cilt.123, sa.5, ss.1985-1987, 2023 (SCI-Expanded)

Preliminary evaluation of potential urinary organic acid biomarkers with mass spectrometry in children with autism spectrum disorder

Sertoglu E., Balik A. R., Duman U. G., Mavis M. E., Arslan M., YILDIZ Y., et al.

Research in Autism Spectrum Disorders , cilt.106, 2023 (SSCI)

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Yıldız Y., Kuseyri Hübschmann O., Akgöz Karaosmanoğlu A., Manti F., Karaca M., Schwartz I. V. D., et al.

Journal of inherited metabolic disease , 2023 (SCI-Expanded)

COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity

KAHRAMAN A. B., YILDIZ Y., ÇIKI K., Erdal I., AKAR H. T., DURSUN A., et al.

Molecular Genetics and Metabolism , cilt.139, sa.2, 2023 (SCI-Expanded)

Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency

KAHRAMAN A. B., YILDIZ Y., GÖKMEN ÖZEL H., KADAYIFÇILAR S., SİVRİ S.

Neuromuscular Disorders , cilt.33, sa.4, ss.315-318, 2023 (SCI-Expanded)

Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report

Erdal İ., YILDIZ Y., ÖNAL G., AKTEPE O. H., Düzgün S. A., Sağlam A., et al.

Endocrine, Metabolic and Immune Disorders - Drug Targets , cilt.23, sa.2, ss.230-234, 2023 (SCI-Expanded)

The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics

DÜZOVA A., AKGÜL S., ÜTİNE G. E., YILDIZ Y.

Turkish Journal of Pediatrics , cilt.65, sa.1, ss.1-2, 2023 (SCI-Expanded)

Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome

KAHRAMAN A. B., Karakaya B., YILDIZ Y., KAMACI S., KESİCİ S., ŞİMŞEK KİPER P. Ö., et al.

Neuromuscular Disorders , cilt.32, sa.11-12, ss.931-934, 2022 (SCI-Expanded)

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

Seker Yilmaz B., Baruteau J., ARSLAN N., AYDIN H. İ., Barth M., Bozaci A. E., et al.

LIFE-BASEL , cilt.12, sa.11, 2022 (SCI-Expanded)

Comment on the "NASPGHAN Position Paper on the Diagnosis and Management of Pediatric Acute Liver Failure".

Yildiz Y., Tokatli A.

Journal of pediatric gastroenterology and nutrition , cilt.74, 2022 (SCI-Expanded)

Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases

KAHRAMAN A. B., AKAR H. T., Lafci N. G., YILDIZ Y., Tokatli A.

MOLECULAR SYNDROMOLOGY , cilt.13, sa.3, ss.193-199, 2022 (SCI-Expanded)

Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI

Özkale Yavuz Ö., Ayaz E., Yıldız Y., Karaosmanoğlu A., Bulut E. G., Sivri H. S., et al.

DIAGNOSTIC AND INTERVENTIONAL RADIOLOGY , cilt.1, ss.1-18, 2022 (SCI-Expanded)

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Scala M., Wortmann S. B., Kaya N., Stellingwerff M. D., Pistorio A., Glamuzina E., et al.

HUMAN MUTATION , cilt.43, sa.3, ss.403-419, 2022 (SCI-Expanded)

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset

Capiau S., Smet J., De Paepe B., YILDIZ Y., Arslan M., Stevens O., et al.

CELLS , cilt.11, sa.3, 2022 (SCI-Expanded)

Genetic Counseling for Phenylketonuria Complicated by Undiagnosed Parental Hyperphenylalaninemia in a Single Family Genetische Beratung bei Phenylketonurie, kompliziert durch nicht diagnostizierte elterliche Hyperphenylalaninämie in einer einzigen Familie

Çlkl K., Özgül R. K., Yildiz Y.

Klinische Padiatrie , 2022 (SCI-Expanded)

Hyperinsulinism may be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency.

Vuralli D., Yildiz Y., Ozon A., Dursun A., Gonc N., Tokatlı A., et al.

Journal of clinical research in pediatric endocrinology , cilt.14, ss.275-286, 2022 (SCI-Expanded)

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients.

Akar H. T., Yıldız Y., Güvenkaya G., Çıkı K., Kahraman A. B., Erdal İ., et al.

Balkan medical journal , cilt.39, ss.345-350, 2022 (SCI-Expanded)

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Keller M., Brennenstuhl H., Kuseyri Hübschmann O., Manti F., Julia Palacios N. A., Friedman J., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.44, sa.6, ss.1489-1502, 2021 (SCI-Expanded)

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity

DURSUN A., YALNIZOĞLU D., Yilmaz D. Y., Oguz K. K., GÜLBAKAN B., KOŞUKCU C., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.64, sa.11, 2021 (SCI-Expanded)

Perplexing Etiology of Hyperphenylalaninemia in an Infant Referred via Newborn Screening.

Çıkı K., Akar H. T., Özgül R. K., Gülbakan B., Yıldız Y.

Clinical chemistry , cilt.67, sa.10, ss.1428-1431, 2021 (SCI-Expanded)

COVID-19-related anxiety in phenylketonuria patients

Akar H. T., Karaboncuk Y., Çıkı K., Kahraman A. B., Erdal İ., Coşkun T., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.63, sa.5, ss.790-800, 2021 (SCI-Expanded)

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Kuseyri Hübschmann O., Horvath G., Cortès-Saladelafont E., Yıldız Y., Mastrangelo M., Pons R., et al.

NATURE COMMUNICATIONS , cilt.12, sa.1, 2021 (SCI-Expanded)

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings

Yıldız Y., Koşukcu C., Aygün D., Akçaboy M., Öztek Çelebi F. Z., Taşcı Yıldız Y., et al.

CLINICAL GENETICS , cilt.100, sa.3, ss.308-317, 2021 (SCI-Expanded)

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Çıkı K., Yıldız Y., Yücel Yılmaz D., Pektaş E., Tokatlı A., Özgül R. K., et al.

METABOLIC BRAIN DISEASE , cilt.36, sa.6, ss.1405-1410, 2021 (SCI-Expanded)

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

Bayrak H., Yıldız Y., Olgaç A., Kasapkara Ç. S., Küçükcongar A., Zenciroğlu A., et al.

METABOLIC BRAIN DISEASE , cilt.36, sa.6, ss.1213-1222, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

Recurrent Postinfectious Rhabdomyolysis in a 5-Year-Old Girl

Torun E., Yildiz Y., Yazici M., Çolak F., Kasapkara C.

KLINISCHE PADIATRIE , cilt.233, sa.04, ss.203-205, 2021 (SCI-Expanded)

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Hübschmann O. K., Mohr A., Friedman J., Manti F., Horvath G., Cortès-Saladelafont E., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.44, sa.4, ss.1070-1082, 2021 (SCI-Expanded)

Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency

AKAR H. T., Çağan M., YILDIZ Y., SİVRİ H. S.

NEUROMUSCULAR DISORDERS , cilt.31, sa.6, ss.566-569, 2021 (SCI-Expanded)

Safety and Efficacy of Liver-Directed Gene Therapy in Patients with Mucopolysaccharidosis Type VI

Brunetti-Pierri N., Ferla R., Ginocchio V. M., Rossi A., Fecarotta S., Romano R., et al.

MOLECULAR THERAPY , cilt.29, sa.4, ss.114, 2021 (SCI-Expanded)

Oral health status of children and young adults with maple syrup urine disease in Turkey.

Ballikaya E., Yildiz Y., Koç N., Tokatli A., Uzamis Tekcicek M., Sivri H. S.

BMC oral health , cilt.21, ss.8, 2021 (SCI-Expanded)

Invisible burden of COVID-19: enzyme replacement therapy disruptions

Kahraman A. B., Yıldız Y., Çıkı K., Akar H. T., Erdal İ., Dursun A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.5, ss.539-545, 2021 (SCI-Expanded)

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder

Yıldız Y., Göçmen R., Yaramış A., Coşkun T., Haliloğlu G.

PEDIATRICS , cilt.146, sa.5, 2020 (SCI-Expanded)

Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department

YILDIZ Y., Akcan Yildiz L., DURSUN A., TOKATLI A., COŞKUN T., TEKŞAM Ö., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.179, sa.7, ss.1107-1114, 2020 (SCI-Expanded) Sürdürülebilir Kalkınma

Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant

Yıldız Y., Uysal Y., Çınar H., Özbay H., Kurt Ç., Kılıç M.

PANCREATOLOGY , cilt.20, sa.4, ss.644-646, 2020 (SCI-Expanded)

Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

Nakip O. S., YILDIZ Y., TOKATLI A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.33, sa.6, ss.721-728, 2020 (SCI-Expanded)

Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay

Hızal M., Yeke B., YILDIZ Y., Öztürk A., Gürbüz B. B., COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS , cilt.62, sa.3, ss.474-478, 2020 (SCI-Expanded)

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Opladen T., Lopez-Laso E., Cortes-Saladelafont E., Pearson T. S., SİVRİ H. S., YILDIZ Y., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.15, sa.1, 2020 (SCI-Expanded)

Comment on: "Multiple acyl-CoA dehydrogenase deficiency in elderly carriers"

YILDIZ Y., TOKATLI A.

JOURNAL OF NEUROLOGY , cilt.267, sa.4, ss.1209-1210, 2020 (SCI-Expanded)

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

YILDIZ Y., Arslan M., Celik G., Kasapkara C. S., Ceylaner S., DURSUN A., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.182, sa.4, ss.705-712, 2020 (SCI-Expanded)

Oral health status of children with phenylketonuria

BALLIKAYA E., YILDIZ Y., SİVRİ H. S., TOKATLI A., DURSUN A., Olmez S., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.33, sa.3, ss.361-365, 2020 (SCI-Expanded)

Inborn errors of metabolism in the differential diagnosis of fatty liver disease

YILDIZ Y., SİVRİ H. S.

TURKISH JOURNAL OF GASTROENTEROLOGY , cilt.31, sa.1, ss.3-16, 2020 (SCI-Expanded)

When Pancreatitis Stinks A Rare Cause of Acute Recurrent Pancreatitis in a Child

YILDIZ Y., Sahin G., Hosnut F. O.

PANCREAS , cilt.49, sa.1, 2020 (SCI-Expanded)

Rare cause of high anion gap metabolic acidosis in an infant: Succinyl-CoA:3-ketoacid transferase deficiency

YILDIZ Y., Azapagasi E.

JOURNAL OF PAEDIATRICS AND CHILD HEALTH , cilt.55, sa.11, ss.1395-1396, 2019 (SCI-Expanded)

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

YILDIZ Y., TALİM B., Haliloglu G., Topaloglu H., AKÇÖREN Z., DURSUN A., et al.

PEDIATRIC NEUROLOGY , cilt.99, ss.69-75, 2019 (SCI-Expanded)

Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management

YILDIZ Y., SİVRİ H. S.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.178, sa.7, ss.1005-1011, 2019 (SCI-Expanded)

Cognitive and behavioral impairment in mild hyperphenylalaninemia

Evinç S., Pektaş E., Foto-Özdemir D., Yıldız Y., Karaboncuk Y., Bilginer-Gürbüz B., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.60, sa.6, ss.617-624, 2018 (SCI-Expanded)

Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy

YILDIZ Y., Olsen R. K. J., SİVRİ H. S., AKÇÖREN Z., Nygaard H. H., TOKATLI A.

NEUROMUSCULAR DISORDERS , cilt.28, sa.9, ss.787-790, 2018 (SCI-Expanded)

Oral health status in patients with mucopolysaccharidoses

BALLIKAYA E., Eymirli P. S., YILDIZ Y., AVCU N., SİVRİ H. S., Uzamis-Tekcicek M.

TURKISH JOURNAL OF PEDIATRICS , cilt.60, sa.4, ss.400-406, 2018 (SCI-Expanded)

Hyperinsulinemic Hypoglycemia in Congenital Disorder of Glycosylation Type-1a (CDG-1a)

Vuralli D., YILDIZ Y., SİVRİ H. S., ALİKAŞİFOĞLU A.

HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.362-363, 2018 (SCI-Expanded)

Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment

YILDIZ Y., Pektas E., TOKATLI A., Haliloglu G.

NEUROPEDIATRICS , cilt.48, sa.1, ss.49-52, 2017 (SCI-Expanded) Sürdürülebilir Kalkınma

Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride

YILDIZ Y., DURSUN A., TOKATLI A., COŞKUN T., Sivri S.

GYNECOLOGICAL ENDOCRINOLOGY , cilt.33, sa.1, ss.19-20, 2017 (SCI-Expanded) Sürdürülebilir Kalkınma

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

YILDIZ Y., DURSUN A., TOKATLI A., COŞKUN T., SİVRİ H. S.

TURKISH JOURNAL OF PEDIATRICS , cilt.58, sa.1, ss.94-96, 2016 (SCI-Expanded)

Periostin is temporally expressed as an extracellular matrix component in skeletal muscle regeneration and differentiation

OZDEMIR C., Akpulat U., SHARAFI P., YILDIZ Y., ONBAŞILAR İ., Kocaefe C.

GENE , cilt.553, sa.2, ss.130-139, 2014 (SCI-Expanded)

Localized acute generalized exanthematous pustulosis with amoxicillin and clavulanic acid

Ozkaya-Parlakay A., Azkur D., KARA A., YILDIZ Y., ORHAN D., CENGİZ A. B., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.53, sa.2, ss.229-232, 2011 (SCI-Expanded)

Diğer Dergilerde Yayınlanan Makaleler

Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury

Akar H. T., Yıldız Y., Mutluay R., Tekin E., Tokatlı A.

CEN CASE REPORTS , cilt.2023, 2023 (ESCI)

A Novel Double Homozygous BTD Gene Mutation in A Case of Profound Biotinidase Deficiency

DEVECİ K., AKAR H. T., YILDIZ Y., ÖZGÜL R. K.

Türkiye Çocuk Hastalıkları Dergisi , 2022 (Hakemli Dergi)

Liver-Directed Adeno-Associated Virus\u2013Mediated Gene Therapy for Mucopolysaccharidosis Type VI

Brunetti-Pierri N., Ferla R., Ginocchio V. M., Rossi A., Fecarotta S., Romano R., et al.

NEJM Evidence , cilt.1, 2022 (Hakemli Dergi)

The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders

Olgaci A., KASAPKARA Ç. S., Acikel B., Yildiz Y., Molla G. K., Kilic M.

JOURNAL OF PEDIATRIC RESEARCH , cilt.8, sa.4, ss.370-376, 2021 (ESCI)

Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses

YILDIZ Y., SİVRİ H. S.

TURKISH ARCHIVES OF PEDIATRICS , cilt.56, sa.6, ss.602-609, 2021 (ESCI)

Infant Acute Lymphoblastic Leukemia with Atypical Presentation

YAMAN BAJİN H. İ., YILDIZ Y., akın ş., AYTAÇ EYÜPOĞLU Ş. S., ÜNAL CANGÜL Ş., KUŞKONMAZ B. B., et al.

Acta Medica , cilt.50, sa.4, ss.57-59, 2019 (Hakemli Dergi)

Kalıtsal Metabolik Hastalıklarda Dental Bulgular

YILDIZ Y., SİVRİ H. S.

Türkiye Klinikleri Çocuk Diş Hekimliği - Özel Konular , cilt.2, sa.2, ss.28-33, 2016 (Hakemli Dergi)

Mukopolisakkaridozlarda ortopedik sorunlar

YILDIZ Y., SİVRİ H. S.

TOTBİD Dergisi , cilt.15, sa.4, ss.303-310, 2016 (Hakemli Dergi)

Analysis of risk taking behaviour of individual pension system participants the case of Turkey

KARA S., YILDIZ Y., KARAN M. B.

Pressacademia , cilt.2, sa.3, ss.375, 2015 (Hakemli Dergi)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Çocukluk Çağı Hiperlipidemileri

Yıldız Y.

14. Ulusal Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Kongresi, İskele, Kıbrıs (Kktc), 12 - 15 Mayıs 2022, ss.1-9

Yağlı Karaciğer Hastalığının Ayırıcı Tanısında Kalıtsal Metabolik Hastalıklar: Kimde Düşünelim, Nasıl Teşhis Edelim?

Yıldız Y.

38. Ulusal Gastroenteroloji Haftası, Antalya, Türkiye, 16 - 21 Kasım 2021

Corporate Cash Holdings in Energy Industry: Evidence from European Firms

YILDIZ Y., KARAN M. B.

Multinational Finance Society, Kudus, Endonezya, 30 Haziran - 02 Temmuz 2019

Stock price crash risk of alternative energy firms: The role of national culture and environmental performance

YILDIZ Y., KARAN M. B.

Multinational Energy and Value Conference, Ankara, Türkiye, 23 - 25 Mayıs 2019

Liver-Directed Gene Therapy Clinical Trial for Mucopolysaccharidosis Type VI

Brunetti-Pierri N., Ferla R., Ginocchio V. M., YILDIZ Y., Fecarotta S., Zancan S., et al.

22nd Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, Kiribati, 29 Nisan - 02 Mayıs 2019, cilt.27, ss.36-37

Corporate Cash Holdings in European Oil and Gas Producers: The role of energy directives

YILDIZ Y., KARAN M. B.

ISINI Conference, Wraclaw, Polonya, 30 - 31 Ağustos 2018

Is Conservative Reporting Attractive to Foreign Institutional Investors? Evidence from an Emerging Market

KARAN M. B., OZKAN A., YILDIZ Y.

Twenty-fifth Annual Conference of Multinational Finance Society, Budapest, Macaristan, 24 - 27 Haziran 2018

Three-year experience of pediatric physicians with adult inpatient consultations

YILDIZ Y., PEKTAŞ E., BİLGİNER GÜRBÜZ B., DURSUN A., TOKATLI A., COŞKUN T., et al.

13th International Congress of Inborn Errors of Metabolism (ICIEM), Rio de Janeiro, Brezilya, 5 Eylül - 08 Mayıs 2017

Acute Metabolic Decompensations of Branched-Chain Organic Acidemias in the Pediatric Emergency Department: Clinical Presentation and Outcomes

SİVRİ H. S., YILDIZ Y., AKCAN L., PEKTAŞ E., BİLGİNER GÜRBÜZ B., DURSUN A., et al.

13th International Congress of Inborn Errors of Metabolism, 5 - 08 Eylül 2017

The clinical, biochemical features, and mutational analyses in glutaric acid type 1 patients

BİLGİNER GÜRBÜZ B., YILDIZ Y., GOKSOY E., YÜCEL YILMAZ D., DURSUN A., TOKATLI A., et al.

International Congress of Inborn Errorsof Metabolism - ICIEM 2017, 5 - 08 Eylül 2017, cilt.5

Momentum or Market? Determinants of Large Price Changes in Stock Prices During Pre- and Post-Crisis Periods

YILDIZ Y., KARAN M. B.

Twenty-fourth Annual Conference of the Multinational Finance Society, Bukres, Romanya, 25 - 28 Haziran 2017

Erişkinlerde kalıtsal metabolik hastalıklar: yatan hasta konsültasyonları ile üç yıllık deneyim

YILDIZ Y., PEKTAŞ E., BİLGİNER GÜRBÜZ B., DURSUN A., TOKATLI A., COŞKUN T., et al.

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Türkiye, 26 - 30 Nisan 2017

Etilmelonik ensefalopati: vaka sunumu

PEKTAŞ E., Yoldaş T. Ç., BİLGİNER GÜRBÜZ B., YILDIZ Y., DURSUN A., SİVRİ H. S., et al.

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Türkiye, 26 - 30 Nisan 2017

Tedavi Almayan Hiperfenilalaninemili Çocuklarda Nörokognitif Fonksiyonların Değerlendirilmesi: İlk Sonuçlar

PEKTAŞ E., Evinc G., FOTO ÖZDEMİR D., Karaboncuk Y., BİLGİNER GÜRBÜZ B., YILDIZ Y., et al.

14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Türkiye, 26 - 30 Nisan 2017

Fenilketonürili bireylerde besin gruplarının enerji, protein ve fenilalanin alımına katkısı

YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.150

Fenilketonürili bireylerin diyetle fenilalanin ve protein alımları: Önerilere uyum nasıldır?

YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.152

Fenilketonürili bireylerde beslenme ve diyet hasta destek programının değerlendirilmesi

GÖKMEN ÖZEL H., YILMAZ Ö., YILDIZ Y., GÖKSOY E., BİLGİNER GÜRBÜZ B., DURSUN A., et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.148

Fenilketonürili bireylerde Türkiye’ye Özgü Beslenme Rehberi’ne göre enerji ve bazı besin ögeleri alımının değerlendirilmesi

YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.151

Fenilketonürili bireylerde diyet enerji ve protein alımlarının antropometrik ölçümlere etkisi var mıdır?

YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.149

A27 Prenatal findings and autopsy examination in a newborn with multiple acyl CoA dehydrogenase deficiency Abstract Book A27 p 85

TOKATLI A., YILDIZ Y., DOKUZBOY SIRMA R., YİĞİT Ş., TALİM B., CEYLANER S., et al.

13th Middle East Metabolic Group Meeting, 6, Amman-Jordan, 28 - 30 Ekim 2016, ss.85

Presentation of classic galactosemia with positive newborn screening for hyperphenylalaninemia

DURSUN A., YILDIZ Y., akın s., bozat a., YİĞİT Ş., BİLGİNER GÜRBÜZ B., et al.

13th Middle East Metabolic Group Meeting, 28 - 30 Ekim 2016

Late diagnosed phenylketonuria in an eight year old boy with dyslexia and attention deficit

DURSUN A., TOKATLI A., COŞKUN T., SİVRİ H. S., YILDIZ Y.

SSIEM ROMA, 6 - 09 Eylül 2016

Klf5 acts as a differentiation switch from proliferation to fusion in myoblasts

Akpulat U., YILDIZ Y., Ozdemir-Saka C., Akcay D., Kocaefe C.

41st FEBS Congress on Molecular and Systems Biology for a Better Life, Kusadasi, Türkiye, 3 - 08 Eylül 2016, cilt.283, ss.114

Two cases with mucopolysaccharidosis type VII

Sivri S., Pektas E., YILDIZ Y., DURSUN A., TOKATLI A., COŞKUN T.

12th Annual WORLD Symposium, California, Amerika Birleşik Devletleri, 29 Şubat - 04 Mart 2016, cilt.117

Two adult siblings with progressive walking difficulty and visual disturbances

SİVRİ H. S., YILDIZ Y., Kiper P. O. S., DURSUN A., TOKATLI A., COŞKUN T.

11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114

Metrikler

Yayın

109

Atıf (WoS)

173

H-İndeks (WoS)

Atıf (Scopus)

376

H-İndeks (Scopus)

Proje

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

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)

Proje

Açık Erişim