Search Results - "DNA sequencing"

Dominant optic atrophy in Denmark - report of 15 novel mutations in <it>OPA1</it>, using a strategy with a detection rate of 90% by Almind Gitte J, Ek Jakob, Rosenberg Thomas, Eiberg Hans, Larsen Michael, LuCamp LuCamp, Brøndum-Nielsen Karen, Grønskov Karen

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Genomic analysis of KEL*03 and KEL*04 alleles among Thai blood donors by Oytip Nathalang, Panasya Rassuree, Kamphon Intharanut, Wanlapa Chaibangyang, Núria Nogués

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Imbalance of Vaginal Microbiota and Immunity: Two Main Accomplices of Cervical Cancer in Chinese Women by Li X, Wu J, Wu Y, Duan Z, Luo M, Li L, Li S, Jia Y

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Genome-wide SNPs reveal novel patterns of spatial genetic structure in Aedes albopictus (Diptera Culicidae) population in China by Yong Wei, Yong Wei, Song He, Jiatian Wang, Peiyang Fan, Yulan He, Ke Hu, Yulan Chen, Guofa Zhou, Daibin Zhong, Xueli Zheng

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APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women by Gaffney Geraldine, Murray Margaret, Cleary Brendan, Lyons Mark, Sedano-Balbás Sara, Maher Majella

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Biochemical Testing

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Nocardia abscessus brain abscess in an immunocompetent host by Jaffar A. Al Tawfiq, Talal Mayman, Ziad A. Memish

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Extract of <i>Gardenia jasminoides</i> Ellis Attenuates High-Fat Diet-Induced Glycolipid Metabolism Disorder in Rats by Targeting Gut Microbiota and TLR4/Myd88/NF-κB Pathway by Chenghao Lv, Xin Liu, Shiyun Chen, Yuhang Yi, Xinnian Wen, Tao Li, Si Qin

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Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD) by N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, D. G. Evans

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Polymerase chain reaction and deoxyribonucleic acid-sequencing based study on distribution of human papillomavirus 16/18 among histopathological types of cervical intra-epithelial... by Prithwijit Ghosh, Damayanti Das Ghosh, Amita Majumdar (Giri), Sharmila Sengupta, Chandana Das, Indranil Mukhopadhyay

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Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay by Rupreht Ruth, Vaupotič Tomaž, Cukjati Marko, Čurin-Šerbec Vladka

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Clinical characteristics of patients with granulomatous lobular mastitis associated with Corynebacterium parakroppenstedtii infection and drug sensitivity analysis of the isolated... by Yifei Zeng, Mengjie Wang, Xiang Gao, Dongxiao Zhang, Na Fu, Wenjie Zhao, Qiao Huang

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Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank by Joan K Morris, Reecha Sofat, Steve E Humphries, Marta Futema, Amand Floriaan Schmidt, Chris Finan, Jasmine Gratton

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Glycine encephalopathy in newborns and young children: global management standards and a clinical case by M.A. Gonchar, O.L. Logvinova, E.M. Pushkar, O.P. Pomazunovskaya, D.A. Ivakhnenko

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Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene by Fernanda Veronese Oliveira, Carla Vecchione Gurgel, Tatiana Yuriko Kobayashi, Thiago José Dionísio, Lucimara Teixeira Neves, Carlos Ferreira Santos, Maria Aparecida Andrade Moreira Machado, Thais Marchini Oliveira

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A Case of Peritonitis Without Underlying Malignancies by Carlos D'Assumpcao MD, Benson Lee DO, Arash Heidari MD

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Detection of Rare and Unknown Mutations in ß- tathalassemia Traits in Iran by M Habibi Roudknar, H Najmabadi, P Derakhshandeh, DD Farhud

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Detection of Rare and Unknown Mutations in ß- tathalassemia Traits in Iran by M Habibi Roudknar, H Najmabadi, P Derakhshandeh, DD Farhud

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Next Generation Sequencing - Advances, Applications and Challenges

OAPEN Library: description of the publication

T-ALL with TEL/AML1 Translocation, Aberrant Expression of CD19 and 33: Case Report and Literature Review by Kave Jasseb, Maria Kavianpour, Javad Mohammadi Asl, Zahra Shahpouri Arani, Vahid Fallah Azad, Mansoureh Haghighi, Najmaldin Saki

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