Yayınlar & Eserler

Yayın Ağı
Makaleler 19
Tümü (19)
SCI-E, SSCI, AHCI (17)
SCI-E, SSCI, AHCI, ESCI (18)
ESCI (1)
Scopus (17)
TRDizin (3)
Diğer Yayınlar (1)

1. Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Manav Yiğit Z., Mengübaş Erbaş A., Türkyılmaz A., Tekin İ. M., Yılmaz Güleç E., Kayhan G., et al.
Balkan medical journal , 2025 (SCI-Expanded, Scopus, TRDizin) identifier

2. Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye

Bir F. D., Uyguner Z. O., Karaman B., Baykal C., Buyukbabani N., Tuysuz B., et al.
MOLECULAR SYNDROMOLOGY , cilt.16, sa.4, ss.327-334, 2025 (SCI-Expanded, Scopus) identifier identifier

3. Serum NMR Metabolomics in Distinct Subtypes of Hematologic Malignancies.

Gul A. Z., Selek Ş., Bekiroglu S., Demirel M., Cakir F. B., Uyanik B.
Experimental hematology , cilt.143, ss.104710, 2025 (SCI-Expanded, Scopus) identifier identifier identifier

4. Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management

Selamioglu A., Kozanoglu T., Hacioglu I., Balci M. C., KARACA M., GEDİKBAŞI A., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.38, sa.3, ss.292-298, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

5. Non-syndromic Congenital Sodium Diarrhea: A Novel Mutation in the SLC9A3 Gene

Hosnut F. O., Sahin G., Uyanik B., Ceylaner S., Akcaboy M.
KLINISCHE PADIATRIE , sa.01, ss.37-38, 2025 (SCI-Expanded, Scopus) identifier identifier

6. Frasier syndrome with 46,XY gonadal dysgenesis diagnosed during etiological evaluation of nephrotic syndrome: A case report

Yanik H., Koc C., Sönmez F., Uyanık B., Al A. D. K., Yildiz M., et al.
HORMONE RESEARCH IN PAEDIATRICS , ss.456, 2024 (SCI-Expanded, Scopus) Creative Commons License identifier

7. A case report of Tangier disease presents with acute sensorimotor polyneuropathy and its treatment approach

Uyanık B.
Journal of Clinical Lipidology , cilt.000, sa.Month 2023, ss.1-5, 2023 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

8. Co-occurrence of Central Tegmental Tract Hyperintensity and Tay-Sachs Disease: A Case Report.

Balsak S., Uyanık B., Atasoy B., Yozgat C. Y., Yurtsever İ., Alkan A.
Pediatrics international : official journal of the Japan Pediatric Society , 2023 (SCI-Expanded, Scopus) Creative Commons License identifier identifier

9. Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

Aksu Uzunhan T., Ertürk B., Aydın K., Ayaz A., Altunoğlu U., Yarar M. H., et al.
Clinical Neurology and Neurosurgery , cilt.224, 2023 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

10. Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population

DUMAN N., Tuncel G., BİŞGİN A., TUĞ BOZDOĞAN S., ÖZEMRİ SAĞ Ş., Gul Ş., et al.
JOURNAL OF MEDICAL VIROLOGY , cilt.94, sa.11, ss.5225-5243, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

11. Could "Islets of Sparing" Be a Clue for Neutral Lipid Storage Disease with Ichthyosis in Patients with Congenital Ichthyosiform Erythroderma?

Topaloğlu Demir F., Cayhan B., Karaoglan C., Turkoglu Z., Büyükbabani N., Ayer M., et al.
INDIAN JOURNAL OF DERMATOLOGY , cilt.67, sa.5, ss.579-582, 2022 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

12. Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome

Aksu Uzunhan T., UYANIK B., Ersoy M., Turkmenoglu Y.
ACTA NEUROLOGICA BELGICA , cilt.122, ss.255-256, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

13. Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Ersoy M., Uyanik B., Gedikbasi A.
Genes , cilt.12, sa.12, 2021 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

14. Comparison of the effect of bipolar coagulation and fibrillar structured oxidized cellulose on formation epidural fibrosis in rats.

Çetin E., Eren B., Karagöz Güzey F., Tufan A., Taş A., Örnek M., et al.
Turkish journal of medical sciences , cilt.51, ss.2206-2212, 2021 (SCI-Expanded, Scopus, TRDizin) Creative Commons License identifier identifier identifier identifier

15. A Rare Case Report: Cloves Syndrome

Alay M. T., KALAYCI A., UYANIK B., Seven M.
EUROPEAN JOURNAL OF HUMAN GENETICS , sa.SUPPL 1, ss.910-911, 2020 (SCI-Expanded, Scopus) identifier

16. Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy

Uzunhan T. A., Uyanik B.
CLINICAL NEUROLOGY AND NEUROSURGERY , cilt.196, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

17. Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

Uzunhan T. A., Erturk B., Cubuk P. O., Uyanik B., Ayaz A., Akan O., et al.
IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI , cilt.10, sa.2, ss.127-135, 2020 (ESCI, TRDizin) Creative Commons License identifier

18. Hemoglobin calabria leading to undetectable hemoglobin A1C

Uyanık B.
Internal Medicine and Care , cilt.3, ss.1-2, 2019 (Hakemli Dergi) Creative Commons License

19. Hazardous genomic bioeffects of home Wi-Fi systems

Dastan S. D., SOYLU S., Pence H. H., Uyanik B., Duman M., KURT A., et al.
NeuroQuantology , cilt.16, sa.11, ss.12-19, 2018 (SCI-Expanded, Scopus) identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 13

1. METABOLOMIC PROFILING IN DISTINCT TYPES OF LEUKEMIA

Gül A. Z., Selek Ş., Bekiroğlu S., Demirel M., Çakır F. B., Uyanık B.
TBS International Biochemistry Congress 2023 - 34th National Biochemistry Congress, Muğla, Türkiye, 26 Ekim - 01 Kasım 2023, cilt.48, ss.238-246, (Tam Metin Bildiri) identifier

2. A novel heterozygous STAT5B variant in a patient with resistant atopic dermatitis and short stature

Bahar S., Özgen İ. T., Uyanık B.
60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE, Rome, İtalya, 15 - 17 Eylül 2022, cilt.95, ss.269, (Özet Bildiri)

3. A case report of hyperinsulinemic hypoglycemia caused by a heterozygous novel mutation in the insulin receptor gene

Özgen İ. T., Bahar S., Uyanık B.
60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Rome, İtalya, 15 Eylül - 17 Aralık 2022, cilt.95, ss.261, (Özet Bildiri) Creative Commons License Sürdürülebilir Kalkınma

4. A case report of Pituitary Stalk Interruption Syndrome caused by novel compound heterozygous mutations in the KATNIP gene

Bahar S., Özgen İ. T., Uyanık B.
60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Rome, İtalya, 15 - 17 Eylül 2022, cilt.95, ss.333-334, (Özet Bildiri) Creative Commons License

5. A case of diabetes and deafness with heteroplasmic mutations in the mitochondrial DNT1 gene

Özgen İ. T., Bahar S., Uyanık B.
60th Annual Meeting of the ESPE, Rome, İtalya, 15 - 17 Eylül 2022, cilt.65, ss.460, (Özet Bildiri) Creative Commons License

6. Glycogen Storage Disease diagnosis with Clinical Exome Sequencing that has CNV detection capabilities.

Uyanik B.
European Society of Human Genetics, 12 - 15 Haziran 2021, ss.1, (Özet Bildiri)

7. WES findings on 150 TurkishRetinitis Pigmentosa Patients

Uyanik B.
European Society of Human Genetics 2021, 12 - 15 Haziran 2021, (Yayınlanmadı)

8. Copy Number Variation Analysis with Next Generation Sequencing

Uyanik B., Canbek S.
14. Ulusal Tıbbi Genetik Kongresi, İstanbul, Türkiye, 20 - 22 Kasım 2020, ss.61, (Özet Bildiri)

9. Analysis of ACE2 gene coding variants by direct whole exome sequencing in the Turkish Population

Uyanik B.
14. Ulusal Tıbbi Genetik Kongresi, İstanbul, Türkiye, 20 - 22 Kasım 2020, ss.17, (Özet Bildiri) Sürdürülebilir Kalkınma

10. Exome sequencing nd out tworecessive disease in one family

Uyanik B., Canbek S.
The American Society of Human Genetics (ASHG) 2020 meeting, Alabama, Amerika Birleşik Devletleri, 26 - 30 Ekim 2020, ss.211, (Özet Bildiri)

11. Rare Case Report: Cloves Syndrome

Uyanik B., Alay M. T., Seven M.
53rd European Society of Human Genetics, 6 - 09 Haziran 2020, ss.30, (Özet Bildiri)

12. Whole and clinical exome sequencing analysis for diagnosis of epidermolysis bullosa

Uyanık B., Canbek S., Taş B.
Erciyes Medical Genetics Days 2019, Kayseri, Türkiye, 21 - 23 Şubat 2019, ss.21, (Özet Bildiri) Creative Commons License

13. Feingold Syndrome in Two Brothers,

Uyanık B.
9. ulusal tıbbi genetik kongresi, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, ss.35, (Tam Metin Bildiri) Creative Commons License
Metrikler

Yayın

33

Yayın (WoS)

18

Yayın (Scopus)

18

Atıf (WoS)

44

H-İndeks (WoS)

4

Atıf (Scopus)

44

H-İndeks (Scopus)

4

Atıf (Scholar)

1

H-İndeks (Scholar)

1

Açık Erişim

16
BM Sürdürülebilir Kalkınma Amaçları