Your search returned 5852 results.

Results
	3141.	Yeast infections--human genetics on the rise. [electronic resource] by Holland, Steven M Vinh, Donald C Producer: 20091104 In: The New England journal of medicine vol. 361 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3142.	The paradox of viable sup45 STOP mutations: a necessary equilibrium between translational readthrough, activity and stability of the protein. [electronic resource] by Kiktev, Denis Moskalenko, Svetlana Murina, Olga Baudin-Baillieu, Agnès Rousset, Jean-Pierre Zhouravleva, Galina Producer: 20090625 In: Molecular genetics and genomics : MGG vol. 282 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3143.	Toward a cellular model of microvillus inclusion disease. [electronic resource] by Wilkie, Andrew O M Producer: 20100730 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3144.	Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary. [electronic resource] by Rácz, E Csikós, M Kornsée, Z Horváth, A Kárpáti, S Producer: 20041222 In: Experimental dermatology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3145.	Respiratory complex III is required to maintain complex I in mammalian mitochondria. [electronic resource] by Acín-Pérez, Rebeca Bayona-Bafaluy, María Pilar Fernández-Silva, Patricio Moreno-Loshuertos, Raquel Pérez-Martos, Acisclo Bruno, Claudio Moraes, Carlos T Enríquez, José A Producer: 20040525 In: Molecular cell vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3146.	Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. [electronic resource] by Posteraro, Patrizia De Luca, Naomi Meneguzzi, Guerrino El Hachem, May Angelo, Corrado Gobello, Tommaso Tadini, Gianluca Zambruno, Giovanna Castiglia, Daniele Producer: 20041108 In: The Journal of investigative dermatology vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3147.	A nonsense mutation (428G-->A) in the fucosyltransferase FUT2 gene affects the progression of HIV-1 infection. [electronic resource] by Kindberg, Elin Hejdeman, Bo Bratt, Göran Wahren, Britta Lindblom, Bertil Hinkula, Jorma Svensson, Lennart Producer: 20060705 In: AIDS (London, England) vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3148.	An archaebacteria-derived glutamyl-tRNA synthetase and tRNA pair for unnatural amino acid mutagenesis of proteins in Escherichia coli. [electronic resource] by Santoro, Stephen W Anderson, J Christopher Lakshman, Vishva Schultz, Peter G Producer: 20040630 In: Nucleic acids research vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3149.	Novel BLIMP1/PRDM1 gene mutations in B-cell lymphoma. [electronic resource] by Tate, Genshu Hirayama-Ohashi, Yoshiko Kishimoto, Koji Mitsuya, Toshiyuki Producer: 20070220 In: Cancer genetics and cytogenetics vol. 172 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3150.	Overproduction of translation elongation factor 1-alpha (eEF1A) suppresses the peroxisome biogenesis defect in a Hansenula polymorpha pex3 mutant via translational read-through. [electronic resource] by Kiel, Jan A K W Titorenko, Vladimir I van der Klei, Ida J Veenhuis, Marten Producer: 20071106 In: FEMS yeast research vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3151.	Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome. [electronic resource] by Sasongko, Teguh Haryo Sadewa, Ahmad Hamim Lee, Myeong Jin Koterazawa, Keiko Nishio, Hisahide Producer: 20080812 In: The Kobe journal of medical sciences vol. 53 Availability: No items available. Save to lists Add to cart (remove)
	3152.	Biallelic mutation of BEST1 causes a distinct retinopathy in humans. [electronic resource] by Burgess, Rosemary Millar, Ian D Leroy, Bart P Urquhart, Jill E Fearon, Ian M De Baere, Elfrida Brown, Peter D Robson, Anthony G Wright, Genevieve A Kestelyn, Philippe Holder, Graham E Webster, Andrew R Manson, Forbes D C Black, Graeme C M Producer: 20080130 In: American journal of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3153.	Ethnic differences in the frequency of the cardioprotective C679X PCSK9 mutation in a West African population. [electronic resource] by Sirois, Francine Gbeha, Elias Sanni, Ambaliou Chretien, Michel Labuda, Damian Mbikay, Majambu Producer: 20081211 In: Genetic testing vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3154.	[Therapeutic readthrough strategy for suppression of nonsense mutations in duchenne muscular dystrophy]. [electronic resource] by Shiozuka, Masataka Matsuda, Ryoichi Producer: 20120209 In: Brain and nerve = Shinkei kenkyu no shinpo vol. 63 Availability: No items available. Save to lists Add to cart (remove)
	3155.	Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review. [electronic resource] by Trufant, Joshua W Greene, Laura Cook, Deborah L McKinnon, Wendy Greenblatt, Marc Bosenberg, Marcus W Producer: 20120510 In: Human pathology vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3156.	Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. [electronic resource] by Yonath, Hagith Reznik-Wolf, Haike Berkenstadt, Michal Eisenberg-Barzilai, Shlomit Lehtokari, Vilma-Lotta Wallgren-Pettersson, Carina Mehta, Lakshmi Achiron, Reuven Gilboa, Yinon Polak-Charcon, Sylvie Winder, Thomas Frydman, Moshe Pras, Elon Producer: 20120712 In: Prenatal diagnosis vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3157.	Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior. [electronic resource] by Saison, Carole Helias, Virginie Ballif, Bryan A Peyrard, Thierry Puy, Hervé Miyazaki, Toru Perrot, Sébastien Vayssier-Taussat, Muriel Waldner, Mauro Le Pennec, Pierre-Yves Cartron, Jean-Pierre Arnaud, Lionel Producer: 20120330 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3158.	Discovery of a linear cyclotide from the bracelet subfamily and its disulfide mapping by top-down mass spectrometry. [electronic resource] by Nguyen, Giang Kien Truc Zhang, Sen Wang, Wei Wong, Clarence Tsun Ting Nguyen, Ngan Thi Kim Tam, James P Producer: 20120227 In: The Journal of biological chemistry vol. 286 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3159.	Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome. [electronic resource] by Raizis, Anthony M Van Mater, David Aaltonen, Lauri A Lohmann, Dietmar Cheale, Michelle S Bickley, Vivienne M George, Peter M Zhou, Yaolin Rosoff, Philip M Producer: 20131125 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3160.	Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. [electronic resource] by Sarkar, Arindam Emrick, Lisa T Smith, Eboni M Austin, Elise G Yang, Yaping Hunter, Jill V Scaglia, Fernando Lalani, Seema R Producer: 20151214 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.