Bilimsel çalışmalar

Doç. Dr. Büşranur Çavdarlı

92 yayın. Her yayının yanında bilginin kaynağı yazar.

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  1. S-61 Miyeloid Neoplazmlarda Somatik Mutasyonların Yeni Nesil Dizileme Teknolojisi ile Tespiti ve Hasta Yönetimine Katkısı

    AYBU AVESIS, 2021

    Kaynak: OpenAlex

  2. Kalıtsal Periferik Nöropatilerin Genetik Etiyoloji Araştımasında Algoritma

    AYBU AVESIS, 2021

    Kaynak: OpenAlex

  3. The effect of BRAFV600E mutation on lymph node involvement in papillary thyroid cancer

    Turkish Journal of Surgery, 2020

    DOI 10.47717/turkjsurg.2020.4696 PMID 33778379 4 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  4. Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation

    Arquivos brasileiros de oftalmologia, 2020

    DOI 10.5935/0004-2749.20200028 PMID 32159596 8 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  5. Optical coherence tomography-angiographic vascular densities in Familial Mediterranean Fever (FMF) Patients with M694V Mutations

    Ophthalmic Genetics, 2020

    DOI 10.1080/13816810.2020.1759108 PMID 32372681 11 atıf (OpenAlex) Kaynak: OpenAlex

  6. Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child

    European journal of medical genetics, 2020

    DOI 10.1016/j.ejmg.2020.103880 PMID 32045704 6 atıf (Europe PMC) Kaynak: Europe PMC

  7. A novel deletion involving exon 13 of factor VIII gene in a newborn with splenic hematoma

    Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis, 2020

    DOI 10.1016/j.transci.2019.06.002 PMID 31230948 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  8. Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy

    Genetic testing and molecular biomarkers, 2020

    DOI 10.1089/gtmb.2020.0085 PMID 32721240 4 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  9. Targeted next-generation sequencing for Limb-Girdle Muscular Dystrophies achieves a high diagnostic yield

    AYBU AVESIS, 2020

    Kaynak: OpenAlex

  10. Identification Of a Novel Mutation and Regression of Macular Edema with TopicalTreatment in Gyrate Atrophy

    AYBU AVESIS, 2019

    Kaynak: OpenAlex

  11. A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl

    International journal of dermatology, 2019

    DOI 10.1111/ijd.14154 PMID 30079965 1 atıf (Europe PMC) Kaynak: Europe PMC

  12. EP.25A limb girdle muscular dystrophy phenotype with mutations in ISPD and TTN

    Neuromuscular Disorders, 2019

    DOI 10.1016/j.nmd.2019.06.155 Kaynak: OpenAlex

  13. Novel Missense ALDH3A2 Mutation in a Patient with Sjögren–Larsson Syndrome

    Journal of Pediatric Neurology, 2019

    DOI 10.1055/s-0039-1698425 Kaynak: OpenAlex

  14. Glycogen storage disease type IX: High variability in clinical phenotype

    AYBU AVESIS, 2019

    Kaynak: OpenAlex

  15. Infantile Epileptic Encephalopathies: Evaluating in Three Cases

    AYBU AVESIS, 2019

    Kaynak: OpenAlex

  16. ARSACS Hastalığı Olan İki Kardeşte Yeni Mutasyon

    AYBU AVESIS, 2019

    Kaynak: OpenAlex

  17. S-10-Diagnosis of a rare disease with variable phenotype in two patients via "genotype to phenotype" approach: Desbuquois dysplasia 1

    AYBU AVESIS, 2019

    Kaynak: OpenAlex

  18. İntrauterin İnme Olgularının Özellikleri ve Prognozları

    AYBU AVESIS, 2019

    Kaynak: OpenAlex

  19. Frequency of multiple endocrine neoplasia-1 in patients with primary hyperparathyroidism

    Endocrine Abstracts, 2018

    DOI 10.1530/endoabs.56.p623 1 atıf (OpenAlex) Kaynak: OpenAlex

  20. Primer hiperparatiroidili hastalarda multipl endokrin neoplazi-1 sıklığı

    AYBU AVESIS, 2018

    Kaynak: OpenAlex

  21. Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency

    Neurology. Clinical practice, 2018

    DOI 10.1212/cpj.0000000000000511 PMID 30564502 9 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

  22. Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines

    International journal of dermatology, 2018

    DOI 10.1111/ijd.14209 PMID 30152106 3 atıf (Europe PMC) Kaynak: Europe PMC

  23. Hypomagnesemia and hypocalcemia du to a novel TRPM6 Mutation

    AYBU AVESIS, 2018

    Kaynak: OpenAlex

  24. A novel mutation in FKTN related to alfadystroglycanopathy

    AYBU AVESIS, 2018

    Kaynak: OpenAlex

  25. Developing A New Screening Kit For Determination Of Spinal Muscular Atrophy Carrier Patients With Real-Time PCR Method

    AYBU AVESIS, 2018

    Kaynak: OpenAlex

  26. Overlooked case of siblings with Kreiborg-Pakistani Syndrome

    AYBU AVESIS, 2018

    Kaynak: OpenAlex

  27. In Reply:

    Journal of Glaucoma, 2017

    DOI 10.1097/ijg.0000000000000673 PMID 28662003 Açık erişimli tam metinKaynak: OpenAlex

  28. Association of Lysyl Oxidase-Like 1 Gene Polymorphism in Turkish Patients With Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

    Journal of Glaucoma, 2016

    DOI 10.1097/ijg.0000000000000557 PMID 27753755 7 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  29. Primer OR mikrosefali ve Seckel Sendromu spektrumu hastalıklarına fenotipik ve genoripik olarak genel tanısal yaklaşım

    AYBU AVESIS, 2016

    Kaynak: OpenAlex

  30. A case with Rett Syndrome caused by a novel mutation p.K298X in MECP2 gene

    AYBU AVESIS, 2016

    Kaynak: OpenAlex

  31. Ailevi kanser öyküsü olan bir vaka üzerinden yeni bir BRCA1 mutasyonu: Ekxon 9 duplikasyonu

    AYBU AVESIS, 2016

    Kaynak: OpenAlex

  32. NADİR GÖRÜLEN İNTRAVASKÜLER BÜYÜK B HÜCRELİ LENFOMA OLGUSU

    AYBU AVESIS, 2015

    Kaynak: OpenAlex

  33. Feokromositomanın Nadir Bir Sebebi; Nörofibromatozis Tip 1-Noonan Sendromu

    Medical Bulletin of Haseki, 2014

    DOI 10.4274/haseki.1539 Açık erişimli tam metinKaynak: OpenAlex

  34. The Importance of Test Variability in Acute Myeloblastic Leukemia: A Case Report

    Gazi Medical Journal, 2014

    DOI 10.12996/gmj.2014.45 Açık erişimli tam metinKaynak: OpenAlex

  35. Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings

    Gene, 2013

    DOI 10.1016/j.gene.2013.04.053 PMID 23644025 8 atıf (Europe PMC) Kaynak: Europe PMC

  36. A Case with Double Translocation and Sjögren’s Syndrome

    Turkiye Klinikleri Journal of Medical Sciences, 2013

    DOI 10.5336/medsci.2011-25707 Açık erişimli tam metinKaynak: OpenAlex

  37. A patient with 9q subtelomeric deletion syndrome with additional findings

    Genetic counseling (Geneva, Switzerland), 2012

    PMID 23431745 1 atıf (Europe PMC) Kaynak: Europe PMC

  38. Perrault syndrome: Evidence for genetic heterogeneity and whole-exome sequencing to identify novel molecular mechanisms

    AYBU AVESIS, 2012

    Kaynak: OpenAlex

  39. 9q subtelomerik delesyonlu bir olgu: Ek bulguları ile

    AYBU AVESIS, 2012

    Kaynak: OpenAlex

  40. Moleküler Karyotipleme ve Nedeni Açıklanamamış Mental Retardasyon: Dup 9qter Saptanan bir Olgu Sunumu

    AYBU AVESIS, 2012

    Kaynak: OpenAlex

  41. Duplication 4q associated with chronic cholestatic changes in liver biopsy

    European journal of medical genetics, 2010

    DOI 10.1016/j.ejmg.2010.08.008 PMID 20826235 9 atıf (Europe PMC) Kaynak: Europe PMC

  42. Five cases with FGFR-releted craniosynostosis syndrome

    AYBU AVESIS, 2009

    Kaynak: OpenAlex