Your search returned 5852 results.

Results
	3061.	Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene. [electronic resource] by Messiaen, L Callens, T De Paepe, A Craen, M Mortier, G Producer: 19971224 In: Human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3062.	Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene. [electronic resource] by Ajzner E, Eva Balogh, István Szabó, Teréz Marosi, Anikó Haramura, Gizella Muszbek, László Producer: 20020213 In: Blood vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3063.	Ssb1 chaperone is a [PSI+] prion-curing factor. [electronic resource] by Chacinska, A Szczesniak, B Kochneva-Pervukhova, N V Kushnirov, V V Ter-Avanesyan, M D Boguta, M Producer: 20011207 In: Current genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3064.	Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course. [electronic resource] by Cho, Jong Tae Guay-Woodford, Lisa Marie Producer: 20031014 In: Journal of Korean medical science vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3065.	A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency. [electronic resource] by Kikuchi, S Tanoue, A Endo, F Wakasugi, S Matsuo, N Tsujimoto, G Producer: 20000414 In: Journal of human genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3066.	Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. [electronic resource] by Beltcheva, O Martin, P Lenkkeri, U Tryggvason, K 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)
	3067.	Nonsense-mediated decay of mRNA for the selenoprotein phospholipid hydroperoxide glutathione peroxidase is detectable in cultured cells but masked or inhibited in rat tissues. [electronic resource] by Sun, X Li, X Moriarty, P M Henics, T LaDuca, J P Maquat, L E Producer: 20010712 In: Molecular biology of the cell vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3068.	Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty. [electronic resource] by Tanae, A Katsumata, N Sato, N Horikawa, R Tanaka, T Producer: 20010301 In: Endocrine journal vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3069.	Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. [electronic resource] by Richard, E Desviat, L R Pérez, B Pérez-Cerdá, C Ugarte, M Producer: 19990527 In: Biochimica et biophysica acta vol. 1453 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3070.	Protease variants, LDL, and coronary heart disease. [electronic resource] by Tall, Alan R Producer: 20060407 In: The New England journal of medicine vol. 354 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3071.	A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history. [electronic resource] by Kittles, R A Baffoe-Bonnie, A B Moses, T Y Robbins, C M Ahaghotu, C Huusko, P Pettaway, C Vijayakumar, S Bennett, J Hoke, G Mason, T Weinrich, S Trent, J M Collins, F S Mousses, S Bailey-Wilson, J Furbert-Harris, P Dunston, G Powell, I J Carpten, J D Producer: 20060630 In: Journal of medical genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3072.	Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. [electronic resource] by Lehtokari, Vilma-Lotta Pelin, Katarina Sandbacka, Maria Ranta, Salla Donner, Kati Muntoni, Francesco Sewry, Caroline Angelini, Corrado Bushby, Kate Van den Bergh, Peter Iannaccone, Susan Laing, Nigel G Wallgren-Pettersson, Carina Producer: 20061024 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3073.	Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. [electronic resource] by Jansen, Jurgen Friesema, Edith C H Kester, Monique H A Milici, Carmelina Reeser, Maarten Grüters, Annette Barrett, Timothy G Mancilla, Edna E Svensson, Johan Wemeau, Jean-Louis Busi da Silva Canalli, Maria Heloisa Lundgren, Johan McEntagart, Meriel E Hopper, Neil Arts, Willem Frans Visser, Theo J Producer: 20070718 In: The Journal of clinical endocrinology and metabolism vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3074.	Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. [electronic resource] by Mellersh, C S Boursnell, M E G Pettitt, L Ryder, E J Holmes, N G Grafham, D Forman, O P Sampson, J Barnett, K C Blanton, S Binns, M M Vaudin, M Producer: 20061031 In: Genomics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3075.	A locus for circadian period of locomotor activity on mouse proximal chromosome 3. [electronic resource] by Kernek, Kari L Trofatter, James A Mayeda, Aimee R Hofstetter, John R Producer: 20041008 In: Chronobiology international vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3076.	A subset of cranial fasciitis is associated with dysregulation of the Wnt/beta-catenin pathway. [electronic resource] by Rakheja, Dinesh Cunningham, Jacqulin C Mitui, Midori Patel, Ashish S Tomlinson, Gail E Weinberg, Arthur G Producer: 20090203 In: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3077.	Germinal mosaicism of GATA3 in a family with HDR syndrome. [electronic resource] by Sun, Yue Xia, Weibo Xing, Xiaoping Li, Mei Wang, Ou Jiang, Yan Pei, Yu Ye, Ping Liu, Huaicheng Hu, Yingying Meng, Xunwu Zhou, Xueying Producer: 20090617 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3078.	MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. [electronic resource] by Müller, Thomas Hess, Michael W Schiefermeier, Natalia Pfaller, Kristian Ebner, Hannes L Heinz-Erian, Peter Ponstingl, Hannes Partsch, Joachim Röllinghoff, Barbara Köhler, Henrik Berger, Thomas Lenhartz, Henning Schlenck, Barbara Houwen, Roderick J Taylor, Christopher J Zoller, Heinz Lechner, Silvia Goulet, Olivier Utermann, Gerd Ruemmele, Frank M Huber, Lukas A Janecke, Andreas R Producer: 20081030 In: Nature genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3079.	Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance. [electronic resource] by Font-Llitjós, Mariona Nunes, Virginia Producer: 20081024 In: Human genetics vol. 124 Availability: No items available. Save to lists Add to cart (remove)
	3080.	Global analysis of alternative splicing uncovers developmental regulation of nonsense-mediated decay in C. elegans. [electronic resource] by Barberan-Soler, Sergio Lambert, Nicole J Zahler, Alan M Producer: 20090910 In: RNA (New York, N.Y.) vol. 15 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.