Dissertations / Theses on the topic 'No mutation identified'
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Consult the top 32 dissertations / theses for your research on the topic 'No mutation identified.'
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Kozusko, Kristina. "Molecular mechanisms of Perilipin-1 action : characterisation of a novel PLIN1 mutation identified in patients with familial partial lipodystrophy." Thesis, University of Cambridge, 2015. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.709005.
Full textChen, Tao [Verfasser]. "Identification and functional characterization of a de novo point mutation identified in a patient with non-syndromal microcephaly and intellectual disability / Tao Chen." Berlin : Freie Universität Berlin, 2016. http://d-nb.info/1108270913/34.
Full textPERON, ANGELA. "TUBEROUS SCLEROSIS COMPLEX: IDENTIFICATION OF THE GENETIC CAUSE IN PATIENTS WITH NO MUTATION DETECTED, AND ANALYSIS OF MOSAICISM." Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/885842.
Full textLi, Jia. "Identifier les variations conduisant au cancer dans le génome non codant et du transcriptome." Thesis, Université Paris-Saclay (ComUE), 2015. http://www.theses.fr/2015SACLS161/document.
Full textDuff, Jennifer. "Characterisation of androgen receptor mutations identified from prostate cancer patients." Thesis, University of Aberdeen, 2005. http://digitool.abdn.ac.uk/R?func=search-advanced-go&find_code1=WSN&request1=AAIU200888.
Full textDempsey, Nunez Laura. "Spectrum of mutations in MMAA identified by high resolution melting analysis." Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=110535.
Full textIllson, Margaret. "Spectrum of mutations in MMAB identified by high resolution melting analysis." Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=110564.
Full textMori, Minako. "Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients." Kyoto University, 2019. http://hdl.handle.net/2433/243302.
Full textSchröder, Michael, Rainer Winnenburg, and Conrad Plake. "Improved mutation tagging with gene identifiers applied to membrane protein stability prediction." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-177379.
Full textSchröder, Michael, Rainer Winnenburg, and Conrad Plake. "Improved mutation tagging with gene identifiers applied to membrane protein stability prediction." BioMed Central, 2009. https://tud.qucosa.de/id/qucosa%3A28888.
Full textBevan, Charlotte Lynne. "Functional analysis of androgen receptor gene mutations identified in patients with androgen insensitivity syndrome." Thesis, University of Cambridge, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.364640.
Full textAlYami, Nasher. "Characterization of mutations identified in patients historically diagnosed with type 1 von Willebrand disease." Thesis, University of Sheffield, 2014. http://etheses.whiterose.ac.uk/7301/.
Full textBurn, Philip. "Functional analysis of the BRCA1 protein through mutation & complex formation identifies a novel BRCA1 interacting protein." Thesis, Queen's University Belfast, 2016. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.705901.
Full textGrampa, Valentina. "Characterization of the pathophysiological mechanisms associated with NEK8/NPHP9 mutations identified in patients with severe renal ciliopathies." Thesis, Sorbonne Paris Cité, 2015. http://www.theses.fr/2015USPCB099.
Full textJambaljav, Byambatseren. "Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3." Kyoto University, 2018. http://hdl.handle.net/2433/232467.
Full textRomey, Marie-Catherine. "Pathologie moléculaire de la mucoviscidose et première caractérisation fonctionnelle d'une variation de séquence identifiée dans le promoteur minimal du gène CFTR." Montpellier 1, 1999. http://www.theses.fr/1999MON1T026.
Full textBurg, Elyssa D. "Tetramerization domain mutations in KCNA5 Identified in pulmonary arterial hypertension patients affect channel kinetics and cause abnormal subcellular localization." Diss., [La Jolla] : University of California, San Diego, 2009. http://wwwlib.umi.com/cr/ucsd/fullcit?p3356425.
Full textMUNISWAMY, RANJITH. "Identification of mutations in the GLI2 gene in CPHD (combined pituitary hormone deficiency) patients. Functional analysis of the identified variants." Doctoral thesis, Università del Piemonte Orientale, 2016. http://hdl.handle.net/11579/115150.
Full textAubanelle-Antiphon, Laurent. "Err1, une mutation isolée chez Arabidopsis thaliana (L. ) Heynh, identifie une nouvelle classe de mutants activateurs des réponses à l'éthylène." Amiens, 2000. http://www.theses.fr/2000AMIE0106.
Full textJohnson, Benny, Laurence Cooke, and Daruka Mahadevan. "Next generation sequencing identifies ‘interactome’ signatures in relapsed and refractory metastatic colorectal cancer." PIONEER BIOSCIENCE PUBL CO, 2017. http://hdl.handle.net/10150/623288.
Full textAbe, Junya. "A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study." Kyoto University, 2014. http://hdl.handle.net/2433/188647.
Full textLopez, Estelle. "Caractérisation fonctionnelle d'altérations moléculaires naturelles présentes dans des régions non codantes du gène CFTR, identifiées chez les patients atteints de mucoviscidose ou de pathologies associées." Montpellier 1, 2009. http://www.theses.fr/2009MON1T018.
Full textAlali, Abdulaziz. "Study of the Role of mutations identified in the M27, M36, m139, m141, and m143 ORFs of the murine cytomegalovirus (MCMV) temperature-sensitive mutant tsm5." Thesis, University of Birmingham, 2011. http://etheses.bham.ac.uk//id/eprint/1703/.
Full textDecaudin, Camille. "Impacts fonctionnels et conséquences sur la différenciation hématopoïétique d’une mutation somatique récurrente du gène PU.1/SPI1 identifiée dans la macroglobulinémie de Waldenström A Recurrent Activating Missense Mutation in Waldenström Macroglobulinemia Affects the DNA Binding of the ETS Transcription Factor SPI1 and Enhances Proliferation." Thesis, université Paris-Saclay, 2020. http://www.theses.fr/2020UPASL004.
Full textWOJCIK, JEROME. "Etude du recepteur de l'hormone de croissance : nouvelles mutations identifiees dans le syndrome de laron et mecanisme d'interaction du recepteur avec jak2. modelisation des boucles des proteines." Paris 7, 1999. http://www.theses.fr/1999PA077249.
Full text"Novel recurrent point mutation and gene fusion identified by new generation sequencing in colorectal cancer." 2013. http://library.cuhk.edu.hk/record=b5884462.
Full textThao, Tou Sue. "Functional study of ROBO2 missense mutation identified in patients with congenital anomalies of the kidney and urinary tract (CAKUT)." Thesis, 2018. https://hdl.handle.net/2144/30911.
Full textLeite, Ana Maia dos Santos. "Characterization of Mps1 mutations identified in cancer samples." Master's thesis, 2015. http://hdl.handle.net/10316/30740.
Full textLu, Yi-Fan. "Functional Evaluation of Causal Mutations Identified in Human Genetic Studies." Diss., 2016. http://hdl.handle.net/10161/12106.
Full text坂口, 大俊, and Hirotoshi Sakaguchi. "Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia." Thesis, 2013. http://hdl.handle.net/2237/18974.
Full textGonzalez, Antonio 1973. "Molecular genetic analysis of TTG1-dependent cell fate pathways identifies a combinatorial Myb/bHLH transcription factor network in Arabidopsis." 2008. http://hdl.handle.net/2152/18349.
Full textZolj, Sanda. "The arabidopsis ALF3-1 mutation causes autoimmunity in the root and identifies a TIR domain protein." Thesis, 2019. https://hdl.handle.net/2144/37061.
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