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	3741.	Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. [electronic resource] by Devgan, S S Sanal, O Doil, C Nakamura, K Nahas, S A Pettijohn, K Bartek, J Lukas, C Lukas, J Gatti, R A Producer: 20111115 In: Cell death and differentiation vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3742.	Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. [electronic resource] by Mayr, Johannes A Haack, Tobias B Graf, Elisabeth Zimmermann, Franz A Wieland, Thomas Haberberger, Birgit Superti-Furga, Andrea Kirschner, Janbernd Steinmann, Beat Baumgartner, Matthias R Moroni, Isabella Lamantea, Eleonora Zeviani, Massimo Rodenburg, Richard J Smeitink, Jan Strom, Tim M Meitinger, Thomas Sperl, Wolfgang Prokisch, Holger Producer: 20120619 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3743.	TLR5 stop codon polymorphism is associated with invasive aspergillosis after allogeneic stem cell transplantation. [electronic resource] by Grube, Matthias Loeffler, Juergen Mezger, Markus Krüger, Bernd Echtenacher, Bernd Hoffmann, Petra Edinger, Matthias Einsele, Hermann Andreesen, Reinhard Holler, Ernst Producer: 20140506 In: Medical mycology vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3744.	Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. [electronic resource] by Chami, Nathalie Tadros, Rafik Lemarbre, François Lo, Ken Sin Beaudoin, Mélissa Robb, Laura Labuda, Damian Tardif, Jean-Claude Racine, Normand Talajic, Mario Lettre, Guillaume Producer: 20150218 In: The Canadian journal of cardiology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3745.	Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice. [electronic resource] by Wada, Kenta Matsushima, Yoshibumi Tada, Tomoki Hasegawa, Sayaka Obara, Yo Yoshizawa, Yasuhiro Takahashi, Gou Hiai, Hiroshi Shimanuki, Midori Suzuki, Sari Saitou, Junichi Yamamoto, Naoki Ichikawa, Masumi Watanabe, Kei Kikkawa, Yoshiaki Producer: 20151224 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3746.	DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study. [electronic resource] by Bello, Luca Morgenroth, Lauren P Gordish-Dressman, Heather Hoffman, Eric P McDonald, Craig M Cirak, Sebahattin Producer: 20170517 In: Neurology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3747.	Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. [electronic resource] by Webb, Bryn D Metikala, Sanjeeva Wheeler, Patricia G Sherpa, Mingma D Houten, Sander M Horb, Marko E Schadt, Eric E Producer: 20180109 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3748.	A nonsense mutation in TLR5 is associated with survival and reduced IL-10 and TNF-α levels in human melioidosis. [electronic resource] by Chaichana, Panjaporn Chantratita, Narisara Brod, Florian Koosakulnirand, Sirikamon Jenjaroen, Kemajittra Chumseng, Suchintana Sumonwiriya, Manutsanun Burtnick, Mary N Brett, Paul J Teparrukkul, Prapit Limmathurotsakul, Direk Day, Nicholas P J Dunachie, Susanna J West, T Eoin Producer: 20170710 In: PLoS neglected tropical diseases vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3749.	A genetically encoded cyclobutene probe for labelling of live cells. [electronic resource] by Liu, K Enns, B Evans, B Wang, N Shang, X Sittiwong, W Dussault, P H Guo, J Producer: 20180402 In: Chemical communications (Cambridge, England) vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3750.	Emergence of a floral colour polymorphism by pollinator-mediated overdominance. [electronic resource] by Kellenberger, Roman T Byers, Kelsey J R P De Brito Francisco, Rita M Staedler, Yannick M LaFountain, Amy M Schönenberger, Jürg Schiestl, Florian P Schlüter, Philipp M Producer: 20190219 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3751.	Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex. [electronic resource] by Kondo, Takeshi Niida, Yo Mizuguchi, Masashi Nagasaki, Yasushi Ueno, Yasuhiro Nishimura, Akiyoshi Producer: 20190513 In: Legal medicine (Tokyo, Japan) vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3752.	A Homozygous Nonsense Mutation in the DSG3 Gene Causes Acantholytic Blisters in the Oral and Laryngeal Mucosa. [electronic resource] by Kim, Jong Hoon Kim, Song-Ee Park, Hae Seok Lee, Si-Hyung Lee, Sang Eun Kim, Soo-Chan Producer: 20200507 In: The Journal of investigative dermatology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3753.	ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications. [electronic resource] by Esperón-Moldes, Uxia Ginarte, Manuel Rodríguez-Pazos, Laura Fachal, Laura Pozo, Tomás Aguilar, Jesús Luelmo Del Boz González, Javier Santiago, Ana Martín Vega, Ana Producer: 20190617 In: Journal of dermatological science vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3754.	Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene. [electronic resource] by Forouhan, Mitra Sonntag, Stephan Boot-Handford, Raymond P Producer: 20190509 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3755.	Serum starvation enhances nonsense mutation readthrough. [electronic resource] by Wittenstein, Amnon Caspi, Michal David, Yifat Shorer, Yamit Nadar-Ponniah, Prathamesh T Rosin-Arbesfeld, Rina Producer: 20200624 In: Journal of molecular medicine (Berlin, Germany) vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3756.	Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation. [electronic resource] by Letzer, Anton Lehmann, Katja Mess, Christian König, Gesa Obser, Tobias Peine, Sven Schneppenheim, Sonja Budde, Ulrich Schneider, Stefan W Schneppenheim, Reinhard Brehm, Maria A Producer: 20200807 In: PloS one vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3757.	Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy. [electronic resource] by Quinlivan, R M Robb, S A Sewry, C Dubowitz, V Piccolo, F Kaplan, J C Producer: 19971219 In: Developmental medicine and child neurology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3758.	A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. [electronic resource] by Petruzzella, V Vergari, R Puzziferri, I Boffoli, D Lamantea, E Zeviani, M Papa, S Producer: 20010614 In: Human molecular genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3759.	Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report. [electronic resource] by Benedik-Dolnicar, Majda Strmecki, Lana Paschke, Eduard Steglich, Cordula Kranjc, Olga Komel, Radovan Producer: 20021217 In: Haematologica vol. 87 Availability: No items available. Save to lists Add to cart (remove)
	3760.	In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients. [electronic resource] by Grayson, C Chapple, J P Willison, K R Webster, A R Hardcastle, A J Cheetham, M E Producer: 20020312 In: Journal of medical genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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