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	4741.	A functional interplay between Δ133p53 and ΔNp63 in promoting glycolytic metabolism to fuel cancer cell proliferation. [electronic resource] by Gong, Lu Pan, Xiao Lim, Chuan-Bian de Polo, Anna Little, John B Yuan, Zhi-Min Producer: 20190312 In: Oncogene vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4742.	Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. [electronic resource] by Ü Basmanav, F Buket Cau, Laura Tafazzoli, Aylar Méchin, Marie-Claire Wolf, Sabrina Romano, Maria Teresa Valentin, Frederic Wiegmann, Henning Huchenq, Anne Kandil, Rima Garcia Bartels, Natalie Kilic, Arzu George, Susannah Ralser, Damian J Bergner, Stefan Ferguson, David J P Oprisoreanu, Ana-Maria Wehner, Maria Thiele, Holger Altmüller, Janine Nürnberg, Peter Swan, Daniel Houniet, Darren Büchner, Aline Weibel, Lisa Wagner, Nicola Grimalt, Ramon Bygum, Anette Serre, Guy Blume-Peytavi, Ulrike Sprecher, Eli Schoch, Susanne Oji, Vinzenz Hamm, Henning Farrant, Paul Simon, Michel Betz, Regina C Producer: 20170523 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4743.	BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. [electronic resource] by Dias, Cristina Estruch, Sara B Graham, Sarah A McRae, Jeremy Sawiak, Stephen J Hurst, Jane A Joss, Shelagh K Holder, Susan E Morton, Jenny E V Turner, Claire Thevenon, Julien Mellul, Kelly Sánchez-Andrade, Gabriela Ibarra-Soria, Ximena Deriziotis, Pelagia Santos, Rui F Lee, Song-Choon Faivre, Laurence Kleefstra, Tjitske Liu, Pentao Hurles, Mathew E Fisher, Simon E Logan, Darren W Producer: 20170509 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4744.	Proviral Features of Human T Cell Leukemia Virus Type 1 in Carriers with Indeterminate Western Blot Analysis Results. [electronic resource] by Kuramitsu, Madoka Sekizuka, Tsuyoshi Yamochi, Tadanori Firouzi, Sanaz Sato, Tomoo Umeki, Kazumi Sasaki, Daisuke Hasegawa, Hiroo Kubota, Ryuji Sobata, Rieko Matsumoto, Chieko Kaneko, Noriaki Momose, Haruka Araki, Kumiko Saito, Masumichi Nosaka, Kisato Utsunomiya, Atae Koh, Ki-Ryang Ogata, Masao Uchimaru, Kaoru Iwanaga, Masako Sagara, Yasuko Yamano, Yoshihisa Okayama, Akihiko Miura, Kiyonori Satake, Masahiro Saito, Shigeru Itabashi, Kazuo Yamaguchi, Kazunari Kuroda, Makoto Watanabe, Toshiki Okuma, Kazu Hamaguchi, Isao Producer: 20180418 In: Journal of clinical microbiology vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4745.	A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. [electronic resource] by Bondeson, M-L Ericson, K Gudmundsson, S Ameur, A Pontén, F Wesström, J Frykholm, C Wilbe, M Producer: 20180528 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4746.	Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. [electronic resource] by Barca, E Musumeci, O Montagnese, F Marino, S Granata, F Nunnari, D Peverelli, L DiMauro, S Quinzii, C M Toscano, A Producer: 20170522 In: Clinical genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4747.	Mild cystic fibrosis in carriers of two nonsense mutations - a case of genetic compensation response? [electronic resource] by Tümmler, Burkhard Producer: 20201013 In: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4748.	A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition. [electronic resource] by Häuser, Friederike Gökce, Seyfullah Werner, Gesa Danckwardt, Sven Sollfrank, Stefanie Neukirch, Carolin Beyer, Vera Hennermann, Julia B Lackner, Karl J Mengel, Eugen Rossmann, Heidi Producer: 20210208 In: Molecular genetics and metabolism vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4749.	Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. [electronic resource] by Nobukuni, Y Watanabe, A Takeda, K Skarka, H Tachibana, M Producer: 19960801 In: American journal of human genetics vol. 59 Availability: No items available. Save to lists Add to cart (remove)
	4750.	Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. [electronic resource] by Björses, P Halonen, M Palvimo, J J Kolmer, M Aaltonen, J Ellonen, P Perheentupa, J Ulmanen, I Peltonen, L Producer: 20000330 In: American journal of human genetics vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4751.	Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. [electronic resource] by Dragon-Durey, M A Quartier, P Frémeaux-Bacchi, V Blouin, J de Barace, C Prieur, A M Weiss, L Fridman, W H Producer: 20010823 In: Journal of immunology (Baltimore, Md. : 1950) vol. 166 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4752.	Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. [electronic resource] by Weaving, Linda S Williamson, Sarah L Bennetts, Bruce Davis, Mark Ellaway, Carolyn J Leonard, Helen Thong, Meow-Keong Delatycki, Martin Thompson, Elizabeth M Laing, Nigel Christodoulou, John Producer: 20030724 In: American journal of medical genetics. Part A vol. 118A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4753.	[Fabry's disease: new therapeutic options for this lysosomal storage disorder]. [electronic resource] by Grau, A J Schwaninger, M Goebel, H H Beck, M Producer: 20040128 In: Der Nervenarzt vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4754.	Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations. [electronic resource] by De Sandre-Giovannoli, A Chaouch, M Boccaccio, I Bernard, R Delague, V Grid, D Vallat, J M Lévy, N Mégarbané, A Producer: 20030805 In: Journal of medical genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4755.	Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. [electronic resource] by Watkins, David Ru, Ming Hwang, Hye-Yeon Kim, Caroline D Murray, Angus Philip, Noah S Kim, William Legakis, Helen Wai, Timothy Hilton, John F Ge, Bing Doré, Carole Hosack, Angela Wilson, Aaron Gravel, Roy A Shane, Barry Hudson, Thomas J Rosenblatt, David S Producer: 20020726 In: American journal of human genetics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4756.	Elongator function depends on antagonistic regulation by casein kinase Hrr25 and protein phosphatase Sit4. [electronic resource] by Mehlgarten, Constance Jablonowski, Daniel Breunig, Karin D Stark, Michael J R Schaffrath, Raffael Producer: 20091203 In: Molecular microbiology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4757.	A homogeneous cell-based bicistronic fluorescence assay for high-throughput identification of drugs that perturb viral gene recoding and read-through of nonsense stop codons. [electronic resource] by Cardno, Tony S Poole, Elizabeth S Mathew, Suneeth F Graves, Ryan Tate, Warren P Producer: 20090804 In: RNA (New York, N.Y.) vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4758.	Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. [electronic resource] by Le Caignec, Cédric Kwiatkowski, David J Küry, Sébastien Hardouin, Jean-Benoit Melki, Judith David, Albert Producer: 20100113 In: European journal of human genetics : EJHG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4759.	[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. [electronic resource] by Sun, Huihui Zhang, Yuehua Liu, Xiaoyan Ma, Xiuwei Wu, Husheng Xu, Keming Qin, Jiong Qi, Yu Wu, Xiru Producer: 20090728 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4760.	Molecular and phenotypic characterization of Listeria monocytogenes from U.S. Department of Agriculture Food Safety and Inspection Service surveillance of ready-to-eat foods and processing facilities. [electronic resource] by Ward, Todd J Evans, Peter Wiedmann, Martin Usgaard, Thomas Roof, Sherry E Stroika, Steven G Hise, Kelley Producer: 20100629 In: Journal of food protection vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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