Bilimsel çalışmalar

Doç. Dr. Büşranur Çavdarlı

92 yayın. Her yayının yanında bilginin kaynağı yazar.

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  1. Association study of optineurin gene polymorphisms T34T and M98K with normal tension glaucoma in a Turkish cohort

    Scientific Reports, 2026

    DOI 10.1038/s41598-026-43217-0 PMID 41796220 Açık erişimli tam metinKaynak: OpenAlex

  2. Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases

    Clinical genetics, 2026

    DOI 10.1111/cge.70193 PMID 42261585 Açık erişimli tam metinKaynak: Europe PMC

  3. Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion

    American journal of medical genetics. Part A, 2026

    DOI 10.1002/ajmg.a.70087 PMID 41703727 Kaynak: Europe PMC

  4. Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications

    European journal of pediatrics, 2026

    DOI 10.1007/s00431-026-07511-3 PMID 42862371 Kaynak: Europe PMC

  5. MLPA-Detected CFTR Exon Deletions in Children With Inconclusive CFTR Sequencing: A Single-Center Experience From Türkiye

    Pediatric pulmonology, 2026

    DOI 10.1002/ppul.71556 PMID 41795673 Kaynak: Europe PMC

  6. 2.06P Clinical and genetic profile of children with LAMA2-related dystrophies in Turkey

    Neuromuscular Disorders, 2026

    DOI 10.1016/j.nmd.2026.106723 Kaynak: OpenAlex

  7. When cystic fibrosis is not the answer: reclassification and follow-up of children with an unresolved diagnosis after extended CFTR gene analysis

    European Journal of Pediatrics, 2026

    DOI 10.1007/s00431-026-07542-w PMID 42931970 Kaynak: OpenAlex

  8. Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta

    Journal of clinical research in pediatric endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2024.2024-8-14 PMID 39713907 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  9. A Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients: A Single-Center Retrospective Study

    Medicina, 2025

    DOI 10.3390/medicina61071164 PMID 40731793 Açık erişimli tam metinKaynak: OpenAlex

  10. Thick Corpus Callosum: An Unusual Finding of TUBGCP2-Related Tubulinopathy

    American journal of medical genetics. Part A, 2025

    DOI 10.1002/ajmg.a.64134 PMID 40448381 1 atıf (Europe PMC) Kaynak: Europe PMC

  11. Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants

    European journal of medical genetics, 2025

    DOI 10.1016/j.ejmg.2025.105052 PMID 41061959 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  12. Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature

    American journal of medical genetics. Part A, 2025

    DOI 10.1002/ajmg.a.63909 PMID 39404469 Kaynak: Europe PMC

  13. SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis

    JCI Insight, 2025

    DOI 10.1172/jci.insight.173484 PMID 40131364 6 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  14. Clinical and genetic profile of patients with leber's congenital amaurosis

    Acta Ophthalmologica, 2025

    DOI 10.1111/aos.16928 Kaynak: OpenAlex

  15. Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls

    Acta diabetologica, 2024

    DOI 10.1007/s00592-024-02273-6 PMID 38565685 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  16. A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation

    The Turkish journal of pediatrics, 2024

    DOI 10.24953/turkjpediatr.2024.4702 PMID 39387423 Açık erişimli tam metinKaynak: Europe PMC

  17. Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature

    Journal of pediatric endocrinology & metabolism : JPEM, 2024

    DOI 10.1515/jpem-2023-0411 PMID 38253347 4 atıf (Europe PMC) Kaynak: Europe PMC

  18. The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience

    The Turkish journal of pediatrics, 2024

    DOI 10.24953/turkjpediatr.2024.4699 PMID 39807739 Açık erişimli tam metinKaynak: Europe PMC

  19. Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum

    Annals of Clinical and Translational Neurology, 2024

    DOI 10.1002/acn3.52129 PMID 39030736 9 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  20. Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants

    Gazi Medical Journal, 2024

    DOI 10.12996/gmj.2023.3795 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  21. Neurogenic Bladder: A Rare Autonomic Sign in a Patient With Preserved Speech Variant (Zappella Variant) Rett Syndrome

    Turkish Journal of Pediatric Disease, 2024

    DOI 10.12956/tchd.1408162 Açık erişimli tam metinKaynak: OpenAlex

  22. Comparison Of Sanger Sequencing And Next Generation Sequencing Methods For Investigation Of Jak2 Exon 12 Mutations In Follow-Up Of Patients With Chronic Myeloproliferative Disease And Jak2 V617f Non-Mutation

    Communications Faculty of Science University of Ankara Series C Biology Geological Engineering and Geophysical Engineering, 2024

    DOI 10.53447/communc.1407463 Açık erişimli tam metinKaynak: OpenAlex

  23. Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations

    Endocrinology research and practice., 2023

    DOI 10.5152/erp.2023.220405 Açık erişimli tam metinKaynak: OpenAlex

  24. Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort

    The Tohoku Journal of Experimental Medicine, 2023

    DOI 10.1620/tjem.2023.j071 PMID 37635061 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  25. High diagnostic yield with algorithmic molecular approach on hereditary neuropathies

    Revista da Associacao Medica Brasileira (1992), 2023

    DOI 10.1590/1806-9282.20220929 PMID 36790232 3 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  26. Neuromuscular disease genetics in under-represented populations: increasing data diversity

    Brain : a journal of neurology, 2023

    DOI 10.1093/brain/awad254 PMID 37516995 25 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  27. P293 Clinical and genetic spectrum of sarcoglycanopathies in a cohort of Turkish patients with a possible founder variation

    Neuromuscular Disorders, 2023

    DOI 10.1016/j.nmd.2023.07.203 1 atıf (OpenAlex) Kaynak: OpenAlex

  28. Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report

    Molecular syndromology, 2023

    DOI 10.1159/000527538 PMID 37064335 7 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  29. Neurofibromatosis Type 1 and Type2 (NF1 and NF2): Molecular Genetic Profiles of the Patients

    Acta Oncologica Turcica, 2023

    DOI 10.5505/aot.2023.10692 Açık erişimli tam metinKaynak: OpenAlex

  30. Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease

    Molecular Syndromology, 2023

    DOI 10.1159/000531668 PMID 38058758 Açık erişimli tam metinKaynak: OpenAlex

  31. B Hücreli Lenfomalarda Sitogenetik Analizlerin Terapotik ve Prognostik Sürece Katkısı: 2 Vaka Sunumu

    AYBU AVESIS, 2023

    Kaynak: OpenAlex

  32. Predictive Factors for Molecular Response in Chronic Myeloid Leukemia: Reduction Ratio and Halving Time of BCR::ABL1 IS Transcript Levels

    The Turkish Journal of Hematology, 2022

    DOI 10.4274/tjh.galenos.2022.2022-0024 PMID 35620443 2 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  33. High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy

    Annals of Human Genetics, 2022

    DOI 10.1111/ahg.12492 PMID 36575883 13 atıf (OpenAlex) Kaynak: OpenAlex

  34. Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition

    The Tohoku Journal of Experimental Medicine, 2022

    DOI 10.1620/tjem.2022.j087 PMID 36288950 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  35. Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome

    The Turkish journal of pediatrics, 2022

    DOI 10.24953/turkjped.2020.3992 PMID 36305450 10 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  36. The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum

    Annals of human genetics, 2022

    DOI 10.1111/ahg.12456 PMID 34961929 2 atıf (Europe PMC) Kaynak: Europe PMC

  37. Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer

    Asia-Pacific journal of clinical oncology, 2022

    DOI 10.1111/ajco.13520 PMID 33629534 7 atıf (Europe PMC) Kaynak: Europe PMC

  38. Genetik ve Dismorfoloji- "Balcı Sendromu"

    AYBU AVESIS, 2022

    Kaynak: OpenAlex

  39. 17q12 duplikasyonu (HNF1B genini içeren): Olgu sunumu

    AYBU AVESIS, 2022

    Kaynak: OpenAlex

  40. Are angiotensin converting enzyme (ACE1/ACE2) gene variants associated with the clinical severity of COVID-19 pneumonia? A singlecenter cohort study

    The Anatolian Journal of Cardiology, 2021

    DOI 10.5152/anatoljcardiol.2021.502 PMID 35190362 9 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  41. Anjiyotensin Dönüştürücü Enzim (ACE1/ACE2) GenPolimorfizmi COVID-19 Pnömonisinin Ciddiyeti ÜzerineEtkili midir?

    AYBU AVESIS, 2021

    Kaynak: OpenAlex

  42. Kalıtsal Retinopatiler ve Tanısal Yaklaşım

    2021

    Kaynak: OpenAlex

  43. Oküler Genetik - 2021

    AYBU AVESIS, 2021

    Kaynak: OpenAlex

  44. Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency

    The Turkish journal of pediatrics, 2021

    DOI 10.24953/turkjped.2021.06.016 PMID 35023658 8 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  45. Severe isolated sulfide oxidase deficiency with a novel mutation

    The Turkish journal of pediatrics, 2021

    DOI 10.24953/turkjped.2021.04.021 PMID 34449156 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  46. Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants

    Journal of pediatric endocrinology & metabolism : JPEM, 2021

    DOI 10.1515/jpem-2021-0055 PMID 34162036 1 atıf (Europe PMC) Kaynak: Europe PMC

  47. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

    Genetics in medicine : official journal of the American College of Medical Genetics, 2021

    DOI 10.1038/s41436-021-01260-4 PMID 34244665 24 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  48. Genetic Landscape of Dystrofin Gene Deletions and Duplications From Turkey: A Single Center Experience

    Turkish Journal of Pediatric Disease, 2021

    DOI 10.12956/tchd.913588 5 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  49. Expanding the genotype-phenotype spectrum of autosomal recessive Charcot-Marie-Tooth disease: A novel PLEKHG5 gene mutation

    Neurology Asia, 2021

    DOI 10.54029/2021jmr 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  50. Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients

    Annals of Medical Research, 2021

    DOI 10.5455/annalsmedres.2020.04.415 Açık erişimli tam metinKaynak: OpenAlex