Search Results - "mutation"

A familial case of Blau syndrome caused by a novel genetic mutation by Woojoong Kim, Eujin Park, Yo Han Ahn, Jiwon M. Lee, Hee Gyung Kang, Byung Joo Kim, Il-Soo Ha, Hae Il Cheong

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Refractory pruritus responds to dupilumab in a patient with TTC7A mutation by Yassaman Alipour Tehrany, MD, Louis Marois, MD, Caroline Colmant, MD, Valérie Marchand, MD, Victor Kokta, MD, Jérôme Coulombe, MD, Danielle Marcoux, MD, Elie Haddad, MD, PhD, Catherine McCuaig, MD

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Targeted next-generation sequencing for the detection of cancer-associated somatic mutations in adenomyosis by Angel Chao, Ren-Chin Wu, Chiao-Yun Lin, Lee-Yu Lee, Chia-Lung Tsai, Yun-Shien Lee, Chin-Jung Wang

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Corrigendum: Impact of kinase activating and inactivating patient mutations on binary PKA interactions by Eduard eStefan

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Comprehensive Characterization of Somatic Mutations Impacting lncRNA Expression for Pan-Cancer by Yue Gao, Xin Li, Hui Zhi, Yunpeng Zhang, Peng Wang, Yanxia Wang, Shipeng Shang, Ying Fang, Weitao Shen, Shangwei Ning, Steven Xi Chen, Xia Li

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Mutation profile of hemoglobinopathies at a tertiary care centre in eastern Uttar Pradesh by Priyanka Aggarwal, Akhtar Ali, Shivanideep, Chandradeep, Vineeta Gupta

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mutations in identified by whole exome sequencing in 2 girls with Alport syndrome in Korea by Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki

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Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene by Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang, Hong Jiang

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Clinical Characteristics and Gene Mutations of Two Families with MODY 3 in Inner Mongolia by Ren XY, Xue MR, Yan ZL, Zhang SJ, Liu M, Li AZ

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Correction: Identification of drug resistance mutations among Mycobacterium bovis lineages in the Americas. by Carlos Arturo Vázquez-Chacón, Felipe de Jesús Rodríguez-Gaxiola, Cruz Fernando López-Carrera, Mayra Cruz-Rivera, Armando Martínez-Guarneros, Ricardo Parra-Unda, Eliakym Arámbula-Meraz, Salvador Fonseca-Coronado, Gilberto Vaughan, Paúl Alexis López-Durán

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Advances and Perspectives in Genetics of Congenital Thyroid Disorders Associated with Thyroglobulin Gene Mutations by Héctor M.Targovnik, Cintia E.Citterio, Sofi a Siffo, Carina M.Rivolta

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Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy by Carter Ellis, BS, Chelsea Eason, MSCR, MD, Alan Snyder, BS, MSCR, Mark Siegel, MD, Gurpur Shashidhar Pai, MD, Erin Ryan, MS, CGC, LGC, Ellen G. Pfendner, PhD, Lara Wine Lee, MD, PhD

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La famille mutante by Solange Mirabail

Subjects: “…mutation…”
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De la mondialisation au développement local en Inde Questions d'échelles

Subjects: “…mutation sociale…”
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Exploring mutation specific beta blocker pharmacology of the pathogenic late sodium channel current from patient-specific pluripotent stem cell myocytes derived from long QT syndrome mutation carriers by Thomas W. Comollo, Xinle Zou, Chuangeng Zhang, Divya Kesters, Thomas Hof, Kevin J. Sampson, Robert S. Kass

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Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene by Gianluigi Laccetta, Maria Tutera, Mario Miccoli, Rita Consolini

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A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome by Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri

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Information et démocratie Mutation du débat public

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Epidemiology of Communicable and Non-Communicable Diseases Attributes of Lifestyle and Nature on Humankind

Subjects: “…nutrition, anemia, mutation, vaccination, surveillance, phenotype…”
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Genetic Diversity

Subjects: “…environment, biodiversity, mutation, polymorphism, hiv-1, legislation…”
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