Search Results - "mutation"

p53-protein over-expression and gene mutational of oral carcinoma in-situ by Mei Syafriadi, Takashi Saku

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the Gene by Rohan Sharma MD, Akilandeswari Aravindhan MD, Clara Puente BS, Aravindhan Veerapandiyan MD

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Prothrombin gene mutations do not cause recurrent pregnancy loss in the Indian population

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A Novel NCSTN Gene Mutation in a Japanese Family with Hidradenitis Suppurativa by Nobuyuki Nishimori, Koremasa Hayama, Kumiko Kimura, Hideki Fujita, Kyoko Fujiwara, Tadashi Terui

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BRCA1/2 mutations and survival of high-grade endometrioid endometrial cancer by Yibo Dai, Jingyuan Wang, Luyang Zhao, Zhiqi Wang

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GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report by Yajie Tong, Dongmei Yue, Ying Xin, Dan Zhang

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A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever by S. Farjadian, F. Bonatti, A. Soriano, M. Reina, A. Adorni, C. Graziano, M. Moghtaderi, A. Percesepe, G. Romeo, D. Martorana

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Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and mutation by Eun Sam Rho, Earl Kim, Hong Koh, Han-Wook Yoo, Beom Hee Lee, Gu-Hwan Kim

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Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study by Elena Manara, Stefano Paolacci, Fabiana D'Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China by Jing Liu, Zirong Li, Ting Lu, Junping Pan, Li Li, Yanwen Song, Dan Hu, Yanhong Zhuo, Ying Chen, Qin Xu

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Two novel mutations in the BCKDHB gene that cause maple syrup urine disease by Bingjuan Han, Bingchao Han, Bin Guo, Yingxia Liu, Zhiyang Cao

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Non-small-cell lung cancer: how to manage BRAF-mutated disease by Giorgia Guaitoli, Lodovica Zullo, Marcello Tiseo, Matthew Dankner, April AN Rose, Francesco Facchinetti

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Adult-Onset Genetic Focal Segmental Glomerulosclerosis: A Tale of Two Mutations by Luís Leite de Sousa, Gonçalo Pimenta, Rita Veríssimo, Rita Theias, Tiago Carvalho

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Surgery of IDH-mutated grade 2 glioma: continually setting the bar higher by Emmanuel Mandonnet

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Novel germline mutations in MLH1 and PMS2 in familial Lynch syndrome by Yuhan Cai, Xiaohan Chang, Congrong Liu, Qianqian Lin, Hua Li

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Aflatoxin levels and prevalence of TP53 aflatoxin-mutations in hepatocellular carcinomas in Mexico by Leonardo S Lino-Silva, Martín Lajous, Marion Brochier, Luis Santiago-Ruiz, Javier Melchor-Ruan, Yi Xie, Mingyi Wang, Dongjing Wu, Herbert Higson, Kristine Jones, Martin Romero-Martínez, Salvador Villalpando, Alejandro Mohar, Joshua W Smith, Christian S Alvarez, Katherine A McGlynn, Michael Dean, John Groopman

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Detection of Mutation in 23S rRNA in Isolates of Streptococcus pyogenes Resistant to Erythromycin by Z Sepehrizadeh, G Zarrini, M Bahrololoumi Shapourabadi, M Tabatabaei Yazdi, M Hosseini shad

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Mexiletine Differentially Restores the Trafficking Defects Caused by Two Brugada Syndrome Mutations by Adrien eMoreau, Dagmar I Keller, Hai eHuang, Véronique eFressart, Christian eSchmied, Quadiri eTimour, Mohamed eChahine

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BRAF V600 Mutation Profile of Metastatic Melanoma in the Thrace Region of Turkey by Nuray CAN, Ebru TAŞTEKIN, Tülin DENIZ YALTA, Necdet SÜT, Selma KORKMAZ, Ufuk USTA, Fulya ÖZ PUYAN, Ezgi GENÇ, Mert CEZIK, Busem BINBOĞA TUTUĞ, Osman KÖSTEK, Hilmi TOZKIR

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Discovering functional modules by identifying recurrent and mutually exclusive mutational patterns in tumors by Aldape Kenneth D, Sulman Erik P, Settle Stephen H, Miller Christopher A, Milosavljevic Aleksandar

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