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	2361.	RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population. [electronic resource] by Ruddle, J B Ebenezer, N D Kearns, L S Mulhall, L E Mackey, D A Hardcastle, A J Producer: 20090915 In: The British journal of ophthalmology vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2362.	Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. [electronic resource] by van den Akker, Peter C van de Graaf, Raoul Dooijes, Dennis van Essen, Anthonie J 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)
	2363.	Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer. [electronic resource] by Otway, R Tetlow, N Hornby, J Doe, W F Kohonen-Corish, M R J Producer: 20050712 In: Human genetics vol. 116 Availability: No items available. Save to lists Add to cart (remove)
	2364.	An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene. [electronic resource] by Sethuraman, G Fassihi, H Ashton, G H S Bansal, A Kabra, M Sharma, V K McGrath, J A Producer: 20050712 In: Clinical and experimental dermatology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2365.	Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. [electronic resource] by Béroud, Christophe Tuffery-Giraud, Sylvie Matsuo, Masafumi Hamroun, Dalil Humbertclaude, Véronique Monnier, Nicole Moizard, Marie-Pierre Voelckel, Marie-Antoinette Calemard, Laurence Michel Boisseau, Pierre Blayau, Martine Philippe, Christophe Cossée, Mireille Pagès, Michel Rivier, François Danos, Olivier Garcia, Luis Claustres, Mireille Producer: 20070228 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2366.	Treacher Collins syndrome. [electronic resource] by Dixon, Jill Trainor, Paul Dixon, Michael J Producer: 20070726 In: Orthodontics & craniofacial research vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2367.	Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. [electronic resource] by Nogales-Gadea, Gisela Rubio, Juan Carlos Fernandez-Cadenas, Israel Garcia-Consuegra, Ines Lucia, Alejandro Cabello, Ana Garcia-Arumi, Elena Arenas, Joaquin Andreu, Antoni L Martín, Miguel A Producer: 20080207 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2368.	MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. [electronic resource] by Tanjore, Reena R Rangaraju, Advithi Kerkar, P G Calambur, Narsimhan Nallari, Pratibha Producer: 20080410 In: The Canadian journal of cardiology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2369.	How do MYBPC3 mutations cause hypertrophic cardiomyopathy? [electronic resource] by Marston, Steven Copeland, O'Neal Gehmlich, Katja Schlossarek, Saskia Carrier, Lucie Carrrier, Lucie Producer: 20120910 In: Journal of muscle research and cell motility vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2370.	High-yield cell-free protein synthesis for site-specific incorporation of unnatural amino acids at two sites. [electronic resource] by Ozawa, Kiyoshi Loscha, Karin V Kuppan, Kekini V Loh, Choy Theng Dixon, Nicholas E Otting, Gottfried Producer: 20120416 In: Biochemical and biophysical research communications vol. 418 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2371.	A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep. [electronic resource] by Zhao, Xia Dittmer, Keren E Blair, Hugh T Thompson, Keith G Rothschild, Max F Garrick, Dorian J Producer: 20111104 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2372.	Severe Cenani-Lenz syndrome caused by loss of LRP4 function. [electronic resource] by Kariminejad, Ariana Stollfuß, Barbara Li, Yun Bögershausen, Nina Boss, Karin Hennekam, Raoul C M Wollnik, Bernd Producer: 20160415 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2373.	Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. [electronic resource] by Jamsheer, Aleksander Zemojtel, Tomasz Kolanczyk, Mateusz Stricker, Sigmar Hecht, Jochen Krawitz, Peter Doelken, Sandra C Glazar, Renata Socha, Magdalena Mundlos, Stefan Producer: 20140508 In: Journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2374.	brca2 in zebrafish ovarian development, spermatogenesis, and tumorigenesis. [electronic resource] by Shive, Heather R West, Robert R Embree, Lisa J Azuma, Mizuki Sood, Raman Liu, Paul Hickstein, Dennis D Producer: 20101230 In: Proceedings of the National Academy of Sciences of the United States of America vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2375.	Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. [electronic resource] by Ghezzi, Daniele Arzuffi, Paola Zordan, Mauro Da Re, Caterina Lamperti, Costanza Benna, Clara D'Adamo, Pio Diodato, Daria Costa, Rodolfo Mariotti, Caterina Uziel, Graziella Smiderle, Cristina Zeviani, Massimo Producer: 20110419 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2376.	Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations. [electronic resource] by Kedar, Prabhakar S Warang, Prashant Ghosh, Kanjaksha Colah, Roshan B Producer: 20110506 In: American journal of hematology vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2377.	An asymptomatic subcutaneous nodule of the lower back: a sentinel lesion for a diagnosis not to be missed. [electronic resource] by Du-Thanh, Aurélie Hamel-Teillac, Dominique De Prost, Yves Bodemer, Christine Fraitag, Sylvie Producer: 20131028 In: The American Journal of dermatopathology vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2378.	GFP Loss-of-Function Mutations in Arabidopsis thaliana. [electronic resource] by Fu, Jason L Kanno, Tatsuo Liang, Shih-Chieh Matzke, Antonius J M Matzke, Marjori Producer: 20160602 In: G3 (Bethesda, Md.) vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2379.	Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy. [electronic resource] by Chan, Sophelia H S Foley, A Reghan Phadke, Rahul Mathew, Ann Agnes Pitt, Matthew Sewry, Caroline Muntoni, Francesco Producer: 20150302 In: Neuromuscular disorders : NMD vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2380.	Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. [electronic resource] by Larsen, Mirjam Rost, Simone El Hajj, Nady Ferbert, Andreas Deschauer, Marcus Walter, Maggie C Schoser, Benedikt Tacik, Pawel Kress, Wolfram Müller, Clemens R Producer: 20160203 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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