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	5321.	Nonsense-mediated decay of ash1 nonsense transcripts in Saccharomyces cerevisiae. [electronic resource] by Zheng, Wei Finkel, Jonathan S Landers, Sharon M Long, Roy M Culbertson, Michael R Producer: 20090206 In: Genetics vol. 180 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5322.	Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients. [electronic resource] by Duno, M Skovby, F Schwartz, M Producer: 20071219 In: Annals of human genetics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5323.	Evidence that PKA activity is constitutively activated in human GH-secreting adenoma cells in a patient with Carney complex harbouring a PRKAR1A mutation. [electronic resource] by Takano, Koji Yasufuku-Takano, Junko Morita, Koji Mori, Shigetoshi Takei, Mao Osamura, Robert Yoshiyuki Teramoto, Akira Fujita, Toshiro Producer: 20090730 In: Clinical endocrinology vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5324.	Resveratrol regulates human adipocyte number and function in a Sirt1-dependent manner. [electronic resource] by Fischer-Posovszky, Pamela Kukulus, Vera Tews, Daniel Unterkircher, Thomas Debatin, Klaus-Michael Fulda, Simone Wabitsch, Martin Producer: 20100707 In: The American journal of clinical nutrition vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5325.	Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. [electronic resource] by Clayton-Smith, Jill O'Sullivan, James Daly, Sarah Bhaskar, Sanjeev Day, Ruth Anderson, Beverley Voss, Anne K Thomas, Tim Biesecker, Leslie G Smith, Philip Fryer, Alan Chandler, Kate E Kerr, Bronwyn Tassabehji, May Lynch, Sally-Ann Krajewska-Walasek, Malgorzata McKee, Shane Smith, Janine Sweeney, Elizabeth Mansour, Sahar Mohammed, Shehla Donnai, Dian Black, Graeme Producer: 20120221 In: American journal of human genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5326.	A novel mutation in STK11 gene is associated with Peutz-Jeghers syndrome in Chinese patients. [electronic resource] by Wang, Zhiqing Chen, Yulan Wu, Baoping Zheng, Haoxuan He, Jiman Jiang, Bo Producer: 20120423 In: BMC medical genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5327.	Identification of a novel mutation in the PTCH gene in a patient with Gorlin-Goltz syndrome with unusual ocular disorders. [electronic resource] by Romano, Mary Iacovello, Daniela Cascone, Nikhil C Contestabile, Maria Teresa Producer: 20120302 In: European journal of ophthalmology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5328.	Molecular analysis of 30 Niemann-Pick type C patients from Spain. [electronic resource] by Macías-Vidal, J Rodríguez-Pascau, L Sánchez-Ollé, G Lluch, M Vilageliu, L Grinberg, D Coll, M J Producer: 20110928 In: Clinical genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5329.	Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. [electronic resource] by Tukel, Turgut Šošić, Drazen Al-Gazali, Lihadh I Erazo, Mónica Casasnovas, Jose Franco, Hector L Richardson, James A Olson, Eric N Cadilla, Carmen L Desnick, Robert J Producer: 20100901 In: American journal of human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5330.	p62/SQSTM1 analysis in frontotemporal lobar degeneration. [electronic resource] by Miller, Louise Rollinson, Sara Callister, Janis Bennion Young, Kate Harris, Jenny Gerhard, Alex Neary, David Richardson, Anna Snowden, Julie Mann, David M A Pickering-Brown, Stuart M Producer: 20151124 In: Neurobiology of aging vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5331.	Truncated somatostatin receptor variant sst5TMD4 confers aggressive features (proliferation, invasion and reduced octreotide response) to somatotropinomas. [electronic resource] by Luque, Raúl M Ibáñez-Costa, Alejandro Neto, Leonardo Vieira Taboada, Giselle F Hormaechea-Agulla, Daniel Kasuki, Leandro Venegas-Moreno, Eva Moreno-Carazo, Alberto Gálvez, María Ángeles Soto-Moreno, Alfonso Kineman, Rhonda D Culler, Michael D Gahete, Manuel D Gadelha, Mônica R Castaño, Justo P Producer: 20150420 In: Cancer letters vol. 359 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5332.	SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. [electronic resource] by Baker, Matt Strongosky, Audrey J Sanchez-Contreras, Monica Y Yang, Shan Ferguson, Will Calne, Donald B Calne, Susan Stoessl, A Jon Allanson, Judith E Broderick, Daniel F Hutton, Michael L Dickson, Dennis W Ross, Owen A Wszolek, Zbigniew K Rademakers, Rosa Producer: 20140908 In: Neurogenetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5333.	C-terminal region of GADD34 regulates eIF2α dephosphorylation and cell proliferation in CHO-K1 cells. [electronic resource] by Otsuka, Ryo Harada, Nagakatsu Aoki, Shouhei Shirai, Kanna Nishitsuji, Kazuchika Nozaki, Ayane Hatakeyama, Adzumi Shono, Masayuki Mizusawa, Noriko Yoshimoto, Katsuhiko Nakaya, Yutaka Kitahata, Hiroshi Sakaue, Hiroshi Producer: 20160926 In: Cell stress & chaperones vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5334.	The nucleoside analog clitocine is a potent and efficacious readthrough agent. [electronic resource] by Friesen, Westley J Trotta, Christopher R Tomizawa, Yuki Zhuo, Jin Johnson, Briana Sierra, Jairo Roy, Bijoyita Weetall, Marla Hedrick, Jean Sheedy, Josephine Takasugi, James Moon, Young-Choon Babu, Suresh Baiazitov, Ramil Leszyk, John D Davis, Thomas W Colacino, Joseph M Peltz, Stuart W Welch, Ellen M Producer: 20170906 In: RNA (New York, N.Y.) vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5335.	Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS). [electronic resource] by Tonoyama, Yasuhiro Shinya, Minori Toyoda, Atsushi Kitano, Takeshi Oga, Atsunori Nishimaki, Toshiyuki Katsumura, Takafumi Oota, Hiroki Wan, Miles T Yip, Bill W P Helen, Mok O L Chisada, Shinichi Deguchi, Tomonori Au, Doris W T Naruse, Kiyoshi Kamei, Yasuhiro Taniguchi, Yoshihito Producer: 20180720 In: Comparative biochemistry and physiology. Toxicology & pharmacology : CBP vol. 209 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5336.	The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics. [electronic resource] by De Roeck, Arne Van Broeckhoven, Christine Sleegers, Kristel Producer: 20200720 In: Acta neuropathologica vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5337.	Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. [electronic resource] by Bargal, R Avidan, N Olender, T Ben Asher, E Zeigler, M Raas-Rothschild, A Frumkin, A Ben-Yoseph, O Friedlender, Y Lancet, D Bach, G Producer: 20010830 In: Human mutation vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5338.	A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification. [electronic resource] by Zeeuwen, Patrick L J M van Vlijmen-Willems, Ivonne M J J Hendriks, Wiljan Merkx, Gerard F M Schalkwijk, Joost Producer: 20030416 In: Human molecular genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5339.	A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon. [electronic resource] by Maillet, P Dalla Venezia, N Lorenzo, F Morinière, M Bozon, M Noël, B Delaunay, J Baklouti, F Producer: 19990820 In: Human mutation vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5340.	Diagnostic strategy for the detection of dystrophin gene mutations in asian patients and carriers using immortalized cell lines. [electronic resource] by Tay, Stacey Kiat Hong Khng, Hwee Hoon Low, Poh Sim Lai, Poh San Producer: 20060928 In: Journal of child neurology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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