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Banu Guzel Nur

Observed names: B G Nur, B Guzel-Nur, B. Nur, B.G. Nur, Banu G. Nur, Banu GÜZEL NUR, Banu Güzel Nur, Banu NUR, Banu Nur, BanuGüzel Nur, NUR, BANU
Institution: Akdeniz University
ORCID: 0000-0002-3463-5763
Observed ORCID: 0000-0002-3463-5763
OpenAlex ID: A5055294401
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey
2016 · Baris Akinci, Huseyin Onay, et al. · The Journal of Clinical Endocrinology & Metabolism · 99
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
2018 · Johanne Dubail, Céline Huber, et al. · Nature Communications · 68
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Recent Advances in Craniosynostosis
2019 · Elanur Yilmaz, Ercan Mihci, et al. · Pediatric Neurology · 63
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
2017 · Rocio Acuna-Hidalgo, Pelagia Deriziotis, et al. · PLoS Genetics · 59
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A familial interstitial 4q35 deletion with no discernible clinical effects
2015 · Sezin Yakut, Ozden Altiok Clarck, et al. · American Journal of Medical Genetics Part A · 44
Renal complications of lipodystrophy: A closer look at the natural history of kidney disease
2018 · Baris Akinci, Sadiye Mehtat Unlu, et al. · Clinical Endocrinology · 36
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Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation
2015 · Banu Guzel Nur, Pinar Gencpinar, et al. · European Journal of Medical Genetics · 35
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
2018 · Guney Bademci, Clemer Abad, et al. · Human Genetics · 34
Interleukin-6 Gene Polymorphism in Febrile Seizures
2011 · Banu Guzel Nur, Zelal Kahramaner, et al. · Pediatric Neurology · 34
A clinical scoring system for congenital contractural arachnodactyly
2019 · Ilse Meerschaut, Shana De Coninck, et al. · Genetics in Medicine · 31
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Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study
2017 · Gulcin Akinci, Haluk Topaloglu, et al. · Neuromuscular Disorders · 31
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
2023 · Ilgin Yildirim Simsir, Beyhan Tuysuz, et al. · Diabetes Obesity and Metabolism · 29
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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
2016 · E. Ranza, C. Huber, et al. · Clinical Genetics · 28
Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review
2014 · Banu G. Nur, Suray Pehlivanoğlu, et al. · Pediatric Neurology · 25
Epidural capillary hemangioma: A review of the literature
2014 · Pinar Gencpinar, Sabri Cem Açıkbaş, et al. · Clinical Neurology and Neurosurgery · 22
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
2020 · Nadja Ehmke, Kristina Cusmano-Ozog, et al. · Bone · 21
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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
2022 · Munis Dundar, Umut Fahrioglu, et al. · Functional & Integrative Genomics · 20
Bone mineral density in patients with mucopolysaccharidosis type III
2016 · Banu Guzel Nur, Hakan Nur, et al. · Journal of Bone and Mineral Metabolism · 19
Single Nucleotide Polymorphism and Production of IL-1β and IL-10 Cytokines in Febrile Seizures
2012 · B.G. Nur, D. Sahinturk, et al. · Neuropediatrics · 18
A novel AXIN2 gene mutation in sagittal synostosis
2018 · Elanur Yilmaz, Ercan Mihci, et al. · American Journal of Medical Genetics Part A · 17
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I
2015 · Esra Kilic, Gökhan Yigit, et al. · American Journal of Medical Genetics Part A · 17
Celiac disease in patients with Williams-Beuren syndrome
2015 · Ercan Mıhçı, Banu Güzel Nur, et al. · The Turkish Journal of Pediatrics · 15
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Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome
2013 · Banu Guzel Nur, Francois P. Bernier, et al. · American Journal of Medical Genetics Part A · 14
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey
2021 · Ezgi Gizem Berkay, Leyla Elkanova, et al. · American Journal of Medical Genetics Part A · 13
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
2016 · Banu Güzel Nur, Gamze Çelmeli, et al. · Journal of Clinical Research in Pediatric Endocrinology · 13
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Works count: 66
Citation count: 901
H-index: 18
I10-index: 27
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