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	5761.	Haploinsufficiency of NSD1 causes Sotos syndrome. [electronic resource] by Kurotaki, Naohiro Imaizumi, Kiyoshi Harada, Naoki Masuno, Mitsuo Kondoh, Tatsuro Nagai, Toshiro Ohashi, Hirofumi Naritomi, Kenji Tsukahara, Masato Makita, Yoshio Sugimoto, Tateo Sonoda, Tohru Hasegawa, Tomoko Chinen, Yasuaki Tomita Ha, Hiro-aki Kinoshita, Akira Mizuguchi, Tsuyoshi Yoshiura Ki, Koh-ichiro Ohta, Tohru Kishino, Tatsuya Fukushima, Yoshimitsu Niikawa, Norio Matsumoto, Naomichi Producer: 20020502 In: Nature genetics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5762.	Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome. [electronic resource] by Fan, C Duhagon, M A Oberti, C Chen, S Hiroi, Y Komuro, I Duhagon, P I Canessa, R Wang, Q Producer: 20030318 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)
	5763.	Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay. [electronic resource] by Harries, Lorna W Hattersley, Andrew T Ellard, Sian Producer: 20040401 In: Diabetes vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5764.	A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. [electronic resource] by Bogdanova, Natalia Cybulski, Cezary Bermisheva, Marina Datsyuk, Ihor Yamini, Paria Hillemanns, Peter Antonenkova, Natalja Nikolaevna Khusnutdinova, Elza Lubinski, Jan Dörk, Thilo Producer: 20100126 In: Breast cancer research and treatment vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5765.	A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. [electronic resource] by Littink, Karin W Pott, Jan-Willem R Collin, Rob W J Kroes, Hester Y Verheij, Joke B G M Blokland, Ellen A W de Castro Miró, Marta Hoyng, Carel B Klaver, Caroline C W Koenekoop, Robert K Rohrschneider, Klaus Cremers, Frans P M van den Born, L Ingeborgh den Hollander, Anneke I Producer: 20100802 In: Investigative ophthalmology & visual science vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5766.	Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. [electronic resource] by Nakamura, Kotoka Du, Liutao Tunuguntla, Rashmi Fike, Francesca Cavalieri, Simona Morio, Tomohiro Mizutani, Shuki Brusco, Alfredo Gatti, Richard A Producer: 20120423 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5767.	Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. [electronic resource] by Goudie, David R D'Alessandro, Mariella Merriman, Barry Lee, Hane Szeverényi, Ildikó Avery, Stuart O'Connor, Brian D Nelson, Stanley F Coats, Stephanie E Stewart, Arlene Christie, Lesley Pichert, Gabriella Friedel, Jean Hayes, Ian Burrows, Nigel Whittaker, Sean Gerdes, Anne-Marie Broesby-Olsen, Sigurd Ferguson-Smith, Malcolm A Verma, Chandra Lunny, Declan P Reversade, Bruno Lane, E Birgitte Producer: 20110509 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5768.	Gene Structure of the 10q26 Locus: A Clue to Cracking the ARMS2/HTRA1 Riddle? [electronic resource] by Kortvely, Elod Ueffing, Marius Producer: 20160418 In: Advances in experimental medicine and biology vol. 854 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5769.	Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis. [electronic resource] by Haller, Gabe Alvarado, David M Willing, Marcia C Braverman, Alan C Bridwell, Keith H Kelly, Michael Lenke, Lawrence G Luhmann, Scott J Gurnett, Christina A Dobbs, Matthew B Producer: 20151123 In: The Journal of bone and joint surgery. American volume vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5770.	The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. [electronic resource] by Cuesta, Ana Pedrola, Laia Sevilla, Teresa García-Planells, Javier Chumillas, María José Mayordomo, Fernando LeGuern, Eric Marín, Ignacio Vílchez, Juan J Palau, Francesc Producer: 20020204 In: Nature genetics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5771.	Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. [electronic resource] by Ishii, Eiichi Ueda, Ikuyo Shirakawa, Ryutaro Yamamoto, Ken Horiuchi, Hisanori Ohga, Shouichi Furuno, Kenji Morimoto, Akira Imayoshi, Miyoko Ogata, Yoshiyasu Zaitsu, Masafumi Sako, Masahiro Koike, Kenichi Sakata, Akifumi Takada, Hidetoshi Hara, Toshiro Imashuku, Shinsaku Sasazuki, Takehiko Yasukawa, Masaki Producer: 20050607 In: Blood vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5772.	Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice. [electronic resource] by Riepe, Felix G Tatzel, Stephan Sippell, Wolfgang G Pleiss, Jürgen Krone, Nils Producer: 20050628 In: Endocrinology vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5773.	Unique CD18 mutations involving a deletion in the extracellular stalk region and a major truncation of the cytoplasmic domain in a patient with leukocyte adhesion deficiency type 1. [electronic resource] by Hixson, Patricia Smith, C Wayne Shurin, Susan B Tosi, Michael F Producer: 20040310 In: Blood vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5774.	Rat neurological mutations cerebellar vermis defect and hobble are caused by mutations in the netrin-1 receptor gene Unc5h3. [electronic resource] by Kuramoto, Takashi Kuwamura, Mitsuru Serikawa, Tadao Producer: 20040712 In: Brain research. Molecular brain research vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5775.	Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. [electronic resource] by Lee, Beom H Kim, Joo H Lee, Sun Y Jin, Hye Y Kim, Kwi-Joo Lee, Jin-Joo Park, Jung-Young Kim, Gu-Hwan Choi, Jin-Ho Kim, Kyung M Yoo, Han-Wook Producer: 20111007 In: Liver international : official journal of the International Association for the Study of the Liver vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5776.	Mutation of SALL2 causes recessive ocular coloboma in humans and mice. [electronic resource] by Kelberman, Daniel Islam, Lily Lakowski, Jörn Bacchelli, Chiara Chanudet, Estelle Lescai, Francesco Patel, Aara Stupka, Elia Buck, Anja Wolf, Stephan Beales, Philip L Jacques, Thomas S Bitner-Glindzicz, Maria Liasis, Alki Lehmann, Ordan J Kohlhase, Jürgen Nischal, Ken K Sowden, Jane C Producer: 20141203 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5777.	A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. [electronic resource] by Noensie, E N Dietz, H C Producer: 20010809 In: Nature biotechnology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5778.	SCNM1, a putative RNA splicing factor that modifies disease severity in mice. [electronic resource] by Buchner, David A Trudeau, Michelle Meisler, Miriam H Producer: 20030908 In: Science (New York, N.Y.) vol. 301 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5779.	Distinct pattern of TP53 mutations in squamous cell carcinoma of the esophagus in Iran. [electronic resource] by Sepehr, A Tanière, P Martel-Planche, G Zia'ee, A A Rastgar-Jazii, F Yazdanbod, M Etemad-Moghadam, G Kamangar, F Saidi, F Hainaut, P Producer: 20011213 In: Oncogene vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5780.	Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. [electronic resource] by Dobrowolski, Steven F McKinney, Jason T Amat di San Filippo, Cristina Giak Sim, Keow Wilcken, Bridget Longo, Nicola Producer: 20060516 In: Human mutation vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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