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1“...This study aimed to examine the effectiveness of defibrinogen therapy on functional recovery and safety among 1332 consecutive ischemic stroke patients who had not received intravenous thrombolysis with recombinant tissue plasminogen activator. ...”
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4af Šímová, Michaela, Trufen, Carlos Eduardo Madureira, Šplíchalová, Iva, Kubovčiak, Jan, Kolář, Michal, Novosadová, Vendula, Procházka, Jan, Filipp, Dominik, Sedláček, Radislav, Balounová, JanaFå fuldtekst
Udgivet 2023
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7“...We report a rare occurrence of 22q13.3 duplication and 22q13.3 deletion in siblings, as a consequence of a mother's inversion on her 22nd chromosome (p13;q13.32). A 6 year old male was noted in infancy to have mild global developmental delay without dysmorphic features. ...”
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9af Feng, Yun, Ren, Xiaojie, Xu, Ziqian, Fu, Shihong, Li, Xiaolong, Zhang, Hailin, Yang, Weihong, Zhang, Yuzhen, Liang, Guodong“...The ORFs of XYBX1332 and Oita-36 encode 3422 and 3425 amino acids, respectively. ...”
Udgivet 2019
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10“...Results: Analysis of AT2R -1332 G:A polymorphism indicated the absence of association between this polymorphism with T2DM and diabetic nephropathy. ...”
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12af Al-Allaf, Faisal A, Athar, Mohammad, Abduljaleel, Zainularifeen, Bouazzaoui, Abdellatif, Taher, Mohiuddin M, Own, Rakan, Al-Allaf, Ahmad F, AbuMansour, Iman, Azhar, Zohor, Ba-hammam, Faisal A, Abalkhail, Hala, Alashwal, Abdullah“...We identified a novel duplication variant c.1332dup, p.(D445*) at exon 9 and a known silent variant c.1413A>G, p.(=), rs5930, NM_001195798.1 at exon 10 of the LDLR gene in both patients....”
Udgivet 2014
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13af Chai, Peiwei, Jia, Ruobing, Jia, Renbing, Pan, Hui, Wang, Shaoyun, Ni, Hongyan, Wang, Huixue, Zhou, Chuandi, Shi, Yingyun, Ge, Shengfang, Zhang, He, Fan, XianqunFå fuldtekst
Udgivet 2018
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14af Talan, David, Mower, William, Abrahamian, Fredrick, Krishnadasan, Anusha, Lovecchio, Frank, Karras, David, Steele, Mark, Rothman, Richard, Moran, GregoryFå fuldtekst
Udgivet 2014
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16af Kashevarova, Anna A., Belyaeva, Elena O., Nikonov, Aleksandr M., Plotnikova, Olga V., Skryabin, Nikolay A., Nikitina, Tatyana V., Vasilyev, Stanislav A., Yakovleva, Yulia S., Babushkina, Nadezda P., Tolmacheva, Ekaterina N., Lopatkina, Mariya E., Savchenko, Renata R., Nazarenko, Lyudmila P., Lebedev, Igor N.“...Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a de novo 2.024 Mb subtelomeric 22q13.32-q13.33 deletion, which is associated with Phelan-McDermid syndrome, and a maternal single gene 382-kb TUSC7 deletion of uncertain clinical significance located in the region of the 3q13.31 deletion syndrome. ...”
Udgivet 2018
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17af Searns, Justin B, Stein, Amy, MacBrayne, Christine, Sarin, Tara, Lin, Taylor, Duffey, Hannah, Hicks, Allison, Wickstrom, Kaylee, Bajaj, Lalit, Bauer, Maureen, Carel, KirstinFå fuldtekst
Udgivet 2020
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18af Liu, Yu, Yang, Ying, Chu, Liming, Ren, Shuai, Li, Ying, Gao, Aimin, Wen, Jing, Deng, Wanling, Lu, Yan, Kong, Lingyin, Liang, Bo, Shao, Xiaoshan“...Hereby, we presented a Chinese boy with a novel 4.36 Mb deletion at paternal 20q13.2-13.32, showing feeding difficulty, malnutrition, short stature, lower limb asymmetry, sightly abnormal facial appearance and mild intellectual abnormality. ...”
Udgivet 2022
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19“...Association of the increased copy number of the 20q11-q13.32 region with drug resistance may be complex and could involve multiple genes. ...”
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20af Boulenouar, Houssam, Hetraf, Sarah Aicha Lardjam, Djellouli, Hadjira Ouhaibi, Meroufel, Djabaria Naima, Fodil, Faouzia Zemani, Hammani-Medjaoui, Imane, Mehtar, Nadhira Saidi, Houti, Leila, Benchekor, Sounnia Mediene“...CONCLUSION: Although the studied genetic variants were not associated with the risk of CHD, the 19q13.32 locus was associated with some of the cardiometabolic disorders in Algerian subjects....”
Udgivet 2020
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