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	4461.	Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. [electronic resource] by Gotoda, Y Wakamatsu, N Kawai, H Nishida, Y Matsumoto, T Producer: 19981204 In: American journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4462.	Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. [electronic resource] by Costa, Maria do Carmo Costa, Cristina Silva, Ana Paula Evangelista, Pedro Santos, Luís Ferro, Anabela Sequeiros, Jorge Maciel, Patrícia Producer: 20060814 In: Neurogenetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4463.	Expanding the clinical spectrum of POMT1 phenotype. [electronic resource] by D'Amico, A Tessa, A Bruno, C Petrini, S Biancheri, R Pane, M Pedemonte, M Ricci, E Falace, A Rossi, A Mercuri, E Santorelli, F M Bertini, E Producer: 20060628 In: Neurology vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4464.	A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). [electronic resource] by Nyström, A-M Bondeson, M-L Skanke, N Mårtensson, J Strömberg, B Gustafsson, J Annerén, G Producer: 20040211 In: The Journal of clinical endocrinology and metabolism vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4465.	A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome. [electronic resource] by Imai, Chihaya Kunishima, Shinji Takachi, Takayuki Iwabuchi, Haruko Nemoto, Tae Imamura, Masaru Uchiyama, Makoto Producer: 20091222 In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4466.	Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. [electronic resource] by Martoni, Elena Urciuolo, Anna Sabatelli, Patrizia Fabris, Marina Bovolenta, Matteo Neri, Marcella Grumati, Paolo D'Amico, Adele Pane, Marika Mercuri, Eugenio Bertini, Enrico Merlini, Luciano Bonaldo, Paolo Ferlini, Alessandra Gualandi, Francesca Producer: 20090730 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4467.	Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene. [electronic resource] by Conte, Chiara D'Apice, Maria Rosaria Botta, Annalisa Sangiuolo, Federica Novelli, Giuseppe Producer: 20090615 In: Genetic testing and molecular biomarkers vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4468.	Uncoupling of expression of an intronic microRNA and its myosin host gene by exon skipping. [electronic resource] by Bell, Matthew L Buvoli, Massimo Leinwand, Leslie A Producer: 20100428 In: Molecular and cellular biology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4469.	Muscle phosphorylase b kinase deficiency revisited. [electronic resource] by Echaniz-Laguna, Andoni Akman, Hasan O Mohr, Michel Tranchant, Christine Talmant-Verbist, Violaine Rolland, Marie-Odile Dimauro, Salvatore Producer: 20100623 In: Neuromuscular disorders : NMD vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4470.	Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA. [electronic resource] by Asselta, Rosanna Rimoldi, Valeria Guella, Ilaria Soldà, Giulia De Cristofaro, Raimondo Peyvandi, Flora Duga, Stefano Producer: 20100419 In: Blood vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4471.	Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. [electronic resource] by Langmann, Thomas Di Gioia, Silvio Alessandro Rau, Isabella Stöhr, Heidi Maksimovic, Nela S Corbo, Joseph C Renner, Agnes B Zrenner, Eberhart Kumaramanickavel, Govindasamy Karlstetter, Marcus Arsenijevic, Yvan Weber, Bernhard H F Gal, Andreas Rivolta, Carlo Producer: 20101007 In: American journal of human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4472.	Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. [electronic resource] by Cameron, J M Maj, M Levandovskiy, V Barnett, C P Blaser, S Mackay, N Raiman, J Feigenbaum, A Schulze, A Robinson, B H Producer: 20090414 In: Human genetics vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4473.	Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure. [electronic resource] by Bisgaard, Hans Simpson, Angela Palmer, Colin N A Bønnelykke, Klaus McLean, Irwin Mukhopadhyay, Somnath Pipper, Christian B Halkjaer, Liselotte B Lipworth, Brian Hankinson, Jenny Woodcock, Ashley Custovic, Adnan Producer: 20080801 In: PLoS medicine vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4474.	C329X in KRIT1 is a founder mutation among CCM patients in Sardinia. [electronic resource] by Cau, Milena Loi, Mario Melis, Maurizio Congiu, Rita Loi, Alberto Meloni, Cristiana Serrenti, Marianna Addis, Maria Melis, Maria Antonietta Producer: 20091113 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4475.	Medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome. [electronic resource] by Crawford, John R Rood, Brian R Rossi, Christopher T Vezina, Gilbert Producer: 20090630 In: Neurology vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4476.	A novel Y331X nonsense mutation in TNFRSF1A gene in two unrelated Turkish families with periodic fever syndrome. [electronic resource] by Kutukculer, N Gulez, N Karaca, N Aksu, G Berdeli, A Producer: 20100617 In: International journal of immunogenetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4477.	Frataxin gene point mutations in Italian Friedreich ataxia patients. [electronic resource] by Gellera, Cinzia Castellotti, Barbara Mariotti, Caterina Mineri, Rossana Seveso, Viviana Didonato, Stefano Taroni, Franco Producer: 20080403 In: Neurogenetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4478.	Human INT6/eIF3e is required for nonsense-mediated mRNA decay. [electronic resource] by Morris, Christelle Wittmann, Jürgen Jäck, Hans-Martin Jalinot, Pierre Producer: 20070820 In: EMBO reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4479.	Limb-girdle muscular dystrophy due to emerin gene mutations. [electronic resource] by Ura, Shigehisa Hayashi, Yukiko K Goto, Kanako Astejada, Mina Nolasco Murakami, Terumi Nagato, Masako Ohta, Shigeru Daimon, Yasuhisa Takekawa, Hidehiro Hirata, Koichi Nonaka, Ikuya Noguchi, Satoru Nishino, Ichizo Producer: 20070831 In: Archives of neurology vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4480.	Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins. [electronic resource] by Peshenko, Igor V Olshevskaya, Elena V Azadi, Seifollah Molday, Laurie L Molday, Robert S Dizhoor, Alexander M Producer: 20111220 In: Biochemistry vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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