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	4061.	Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. [electronic resource] by Pilozzi-Edmonds, Laura Maher, Thomas A Basran, Raveen K Milunsky, Aubrey Al-Thihli, Khalid Braverman, Nancy E Alfares, Ahmed Producer: 20111123 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4062.	Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. [electronic resource] by Li, M Liang, J Y Sun, Z H Zhang, H Yao, Z R Producer: 20121214 In: Genetics and molecular research : GMR vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4063.	Low rates of synonymous mutations in sequences of Mycobacterium tuberculosis GyrA and KatG genes. [electronic resource] by Khrustalev, Vladislav Victorovich Arjomandzadegan, Mohammad Barkovsky, Eugene Victorovich Titov, Leonid Petrovich Producer: 20120907 In: Tuberculosis (Edinburgh, Scotland) vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4064.	Suppression of premature termination codons as a therapeutic approach. [electronic resource] by Keeling, Kim M Wang, Dan Conard, Sara E Bedwell, David M Producer: 20121228 In: Critical reviews in biochemistry and molecular biology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4065.	Unspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cells. [electronic resource] by Morgado, Ana Almeida, Fátima Teixeira, Alexandre Silva, Ana Luísa Romão, Luísa Producer: 20121011 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4066.	Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. [electronic resource] by Drielsma, Anais Jalas, Chaim Simonis, Nicolas Désir, Julie Simanovsky, Natalia Pirson, Isabelle Elpeleg, Orly Abramowicz, Marc Edvardson, Simon Producer: 20130503 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4067.	Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin. [electronic resource] by Franco, Hector L Casasnovas, Jose J Leon, Ruth G Friesel, Robert Ge, Yongchao Desnick, Robert J Cadilla, Carmen L Producer: 20111219 In: The international journal of biochemistry & cell biology vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4068.	A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents. [electronic resource] by Crimella, Claudia Cantoni, Orazio Guidarelli, Andrea Vantaggiato, Chiara Martinuzzi, Andrea Fiorani, Mara Azzolini, Catia Orso, Genny Bresolin, Nereo Bassi, Maria Teresa Producer: 20110722 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4069.	Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. [electronic resource] by Thomas, Anna C Williams, Hywel Setó-Salvia, Núria Bacchelli, Chiara Jenkins, Dagan O'Sullivan, Mary Mengrelis, Konstantinos Ishida, Miho Ocaka, Louise Chanudet, Estelle James, Chela Lescai, Francesco Anderson, Glenn Morrogh, Deborah Ryten, Mina Duncan, Andrew J Pai, Yun Jin Saraiva, Jorge M Ramos, Fabiana Farren, Bernadette Saunders, Dawn Vernay, Bertrand Gissen, Paul Straatmaan-Iwanowska, Anna Baas, Frank Wood, Nicholas W Hersheson, Joshua Houlden, Henry Hurst, Jane Scott, Richard Bitner-Glindzicz, Maria Moore, Gudrun E Sousa, Sérgio B Stanier, Philip Producer: 20150126 In: American journal of human genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4070.	Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3. [electronic resource] by Evans, Cerys J Liskova, Petra Dudakova, Lubica Hrabcikova, Pavlina Horinek, Ales Jirsova, Katerina Filipec, Martin Hardcastle, Alison J Davidson, Alice E Tuft, Stephen J Producer: 20150529 In: Annals of human genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4071.	In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation. [electronic resource] by Keightley, Maria-Cristina Crowhurst, Meredith O Layton, Judith E Beilharz, Traude Markmiller, Sebastian Varma, Sony Hogan, Benjamin M de Jong-Curtain, Tanya A Heath, Joan K Lieschke, Graham J Producer: 20130905 In: FEBS letters vol. 587 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4072.	Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. [electronic resource] by Guo, Yiran Prokudin, Ivan Yu, Cong Liang, Jinlong Xie, Yi Flaherty, Maree Tian, Lifeng Crofts, Stephanie Wang, Fengxiang Snyder, James Donaldson, Craig Abdel-Magid, Nada Vazquez, Lyam Keating, Brendan Hakonarson, Hakon Wang, Jun Jamieson, Robyn V Producer: 20160719 In: Ophthalmic genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4073.	KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. [electronic resource] by Hu, Huan Xiao, Xueshan Li, Shiqiang Jia, Xiaoyun Guo, Xiangming Zhang, Qingjiong Producer: 20160526 In: The British journal of ophthalmology vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4074.	Mutations in [electronic resource] by Woodbury-Smith, Marc Deneault, Eric Yuen, Ryan K C Walker, Susan Zarrei, Mehdi Pellecchia, Giovanna Howe, Jennifer L Hoang, Ny Uddin, Mohammed Marshall, Christian R Chrysler, Christina Thompson, Ann Szatmari, Peter Scherer, Stephen W Producer: 20180205 In: Molecular autism vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4075.	Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. [electronic resource] by Targovnik, H M Frechtel, G D Mendive, F M Vono, J Cochaux, P Vassart, G Medeiros-Neto, G Producer: 19980626 In: Thyroid : official journal of the American Thyroid Association vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4076.	Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. [electronic resource] by Furuta, Hiroto Furuta, Machi Sanke, Tokio Ekawa, Kunihiro Hanabusa, Tadashi Nishi, Masahiro Sasaki, Hideyuki Nanjo, Kishio Producer: 20020830 In: The Journal of clinical endocrinology and metabolism vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4077.	Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan. [electronic resource] by Ueda, Ikuyo Morimoto, Akira Inaba, Tohru Yagi, Tomohito Hibi, Shigeyoshi Sugimoto, Tohru Sako, Masahiro Yanai, Fumio Fukushima, Takashi Nakayama, Masahiko Ishii, Eiichi Imashuku, Shinsaku Producer: 20030722 In: British journal of haematology vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4078.	Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. [electronic resource] by Marlin, S Blanchard, S Slim, R Lacombe, D Denoyelle, F Alessandri, J L Calzolari, E Drouin-Garraud, V Ferraz, F G Fourmaintraux, A Philip, N Toublanc, J E Petit, C Producer: 20000106 In: Human mutation vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4079.	Site-specific incorporation of unnatural amino acids into receptors expressed in Mammalian cells. [electronic resource] by Monahan, Sarah L Lester, Henry A Dougherty, Dennis A Producer: 20040315 In: Chemistry & biology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4080.	Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. [electronic resource] by Biguzzi, Eugenia Razzari, Cristina Lane, David A Castaman, Giancarlo Cappellari, Antonio Bucciarelli, Paolo Fontana, Gessica Margaglione, Maurizio D'Andrea, Giovanna Simmonds, Rachel E Rezende, Suely M Preston, Roger Prisco, Domenico Faioni, Elena M 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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