关注
Mehmet Bugrahan Duz
Mehmet Bugrahan Duz
Department of Pediatrics, Boston Children's Hospital, Harvard Medical School
在 childrens.harvard.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease
E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ...
Neuron 88 (3), 499-513, 2015
3062015
WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome
JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ...
The American Journal of Human Genetics 102 (1), 27-43, 2018
1182018
Identification of miR-139-5p as a saliva biomarker for tongue squamous cell carcinoma: a pilot study
MB Duz, OF Karatas, E Guzel, NF Turgut, M Yilmaz, CJ Creighton, ...
Cellular Oncology 39, 187-193, 2016
942016
The role of miRNAs in cancer: from pathogenesis to therapeutic implications
M Seven, OF Karatas, MB Duz, M Ozen
Future oncology 10 (6), 1027-1048, 2014
742014
Differential expression of stem cell markers and ABCG2 in recurrent prostate cancer
E Guzel, OF Karatas, MB Duz, M Solak, M Ittmann, M Ozen
The Prostate 74 (15), 1498-1505, 2014
642014
The role of ATP‐binding cassette transporter genes in the progression of prostate cancer
OF Karatas, E Guzel, MB Duz, M Ittmann, M Ozen
The Prostate 76 (5), 434-444, 2016
422016
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
UD Network, TUD Program, Pasq
Brain 145 (9), 3308-3327, 2022
312022
Neonatal fractures as a presenting feature of LMOD3‐associated congenital myopathy
M Abbott, M Jain, R Pferdehirt, Y Chen, A Tran, MB Duz, M Seven, ...
American Journal of Medical Genetics Part A 173 (10), 2789-2794, 2017
222017
Differential expression of ABCB1, ABCG2, and KLF4 as putative indicators for paclitaxel resistance in human epithelial type 2 cells
MB Duz, OF Karatas
Molecular Biology Reports 48, 1393-1400, 2021
162021
Expression profile of stem cell markers and ABC transporters in 5-fluorouracil resistant Hep-2 cells
MB Duz, OF Karatas
Molecular biology reports 47 (7), 5431-5438, 2020
122020
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review
MB Duz, E Kirat, PJ Coucke, E Koparir, A Gezdirici, A De Paepe, ...
Clinical dysmorphology 26 (3), 142-147, 2017
122017
Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome
B Lee, MB Duz, B Sagong, A Koparir, KY Lee, JY Choi, M Seven, ...
Gene 576 (2), 776-781, 2016
82016
Recurrent c. 776T> C mutation in CHST3 with four other novel mutations and a literature review
MB Duz, A Topak
Clinical dysmorphology 29 (4), 167-172, 2020
62020
Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease
PO Cubuk, MB Duz
European Journal of Medical Genetics 64 (11), 104343, 2021
32021
Calculation of embryo/fetus dose in pregnant thyroid patients who have accidentally received radioiodine
M Demir, İ Çavdar, N Yeyin, M Abuqbeitah, LU Beşli, N İpek, MB Düz, ...
European Archives of Medical Research 35 (3), 120, 2019
32019
Rare findings in cleidocranial dysplasia caused by RUNX mutation
A Kalayci Yigin, MB Duz, M Seven
Global Medical Genetics 9 (01), 023-028, 2021
22021
Three novel mutations in 20 patients with hereditary spastic paraparesis
MB Duz, S Dasdemir, A Kalayci Yigin, MA Akalin, M Seven
Neurological Sciences 39, 1551-1557, 2018
22018
Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion
MB Duz, P Ozyavuz Cubuk
Journal of Human Genetics 66 (3), 315-320, 2021
12021
Comparison of microRNA expression levels in patients with schizophrenia before and after electroconvulsive therapy
NGU Saglam, MB Duz, SS Yilmaz, M Ozen, I Balcioglu
Psychiatric Genetics, 10.1097, 2024
2024
A novel CLN5 mutation in Turkish patient with variant late-onset neuronal ceroid lipofuscinosis and recurrent fractures that causes severe morbidity
MB Duz
Neurocase 27 (6), 437-440, 2021
2021
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