Busra Cavdarlı
Yildirim Beyazit, Turkey
Last Updated: 09/26/2026
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Found 9 publications
PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients.
Journal: Klinische Padiatrie
Published: July 16, 2026
A Novel Interleukin 17 Receptor A Mutation in a Child with Chronic Mucocutaneous Candidiasis and Staphylococcal Skin Infections.
Journal: Turkish archives of pediatrics
Published: June 15, 2023
New Onset Mitral Regurgitation Caused by Mitral Valve Prolapse in a Male Patient with Dominant Pretibial Dystrophic Epidermolysis Bullosa.
Journal: Indian journal of dermatology
Published: June 03, 2022
Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.
Journal: The Turkish journal of pediatrics
Published: January 13, 2022
Successful treatment with anakinra in generalized spiculated porokeratosis and severe hidradenitis suppurativa in a patient with MVK and MEFV mutations.
Journal: Clinical and experimental dermatology
Published: June 24, 2021
Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers.
Journal: Pediatric nephrology (Berlin, Germany)
Published: November 11, 2020
Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions.
Journal: Pediatric nephrology (Berlin, Germany)
Published: November 11, 2020
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis
Journal: Journal of clinical research in pediatric endocrinology
Published: September 17, 2020
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: July 11, 2019
Showing 1-9 of 9
Last Updated: 09/26/2026