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	5021.	Analysis of retinal structure and function in cone dystrophy with supernormal rod response. [electronic resource] by Abdelkader, Ehab Yasir, Z H Khan, Abdullah M Raddadi, Osama Khandekar, Rajiv Alateeq, Nayef Nowilaty, Sawsan AlShahrani, Najah Schatz, Patrik Producer: 20201002 In: Documenta ophthalmologica. Advances in ophthalmology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5022.	Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. [electronic resource] by Engel, J R Smallwood, A Harper, A Higgins, M J Oshimura, M Reik, W Schofield, P N Maher, E R Producer: 20010125 In: Journal of medical genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5023.	A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. [electronic resource] by Liu, H X Cartegni, L Zhang, M Q Krainer, A R Producer: 20010201 In: Nature genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5024.	Disruption of imprinted X inactivation by parent-of-origin effects at Tsix. [electronic resource] by Lee, J T Producer: 20001121 In: Cell vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5025.	Characterization of a novel breast carcinoma xenograft and cell line derived from a BRCA1 germ-line mutation carrier. [electronic resource] by Johannsson, Oskar T Staff, Synnöve Vallon-Christersson, Johan Kytöla, Soili Gudjonsson, Thorarinn Rennstam, Karin Hedenfalk, Ingrid A Adeyinka, Adewale Kjellén, Elisabeth Wennerberg, Johan Baldetorp, Bo Petersen, Ole W Olsson, Håkan Oredsson, Stina Isola, Jorma Borg, Ake Producer: 20030408 In: Laboratory investigation; a journal of technical methods and pathology vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5026.	Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform. [electronic resource] by Pantel, Jacques Grulich-Henn, Jürgen Bettendorf, Markus Strasburger, Christian J Heinrich, Udo Amselem, Serge Producer: 20030509 In: The Journal of clinical endocrinology and metabolism vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5027.	Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. [electronic resource] by Hu, Xiaofeng Peek, Ron Plomp, Astrid ten Brink, Jacoline ten Scheffer, George van Soest, Simone Leys, Anita de Jong, Paulus T V M Bergen, Arthur A B Producer: 20030519 In: Investigative ophthalmology & visual science vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5028.	Haplotype tag single nucleotide polymorphism analysis of the human orthologues of the rat type 1 diabetes genes Ian4 (Lyp/Iddm1) and Cblb. [electronic resource] by Payne, Felicity Smyth, Deborah J Pask, Rebecca Barratt, Bryan J Cooper, Jason D Twells, Rebecca C J Walker, Neil M Lam, Alex C Smink, Luc J Nutland, Sarah Rance, Helen E Todd, John A Producer: 20040401 In: Diabetes vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5029.	Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations. [electronic resource] by Al-Khayer, Kholoud Hagstrom, Stephanie Pauer, Gayle Zegarra, Hernando Sears, Jonathan Traboulsi, Elias I Producer: 20040224 In: American journal of ophthalmology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5030.	Inositol (1,4,5) trisphosphate 3 kinase B controls positive selection of T cells and modulates Erk activity. [electronic resource] by Wen, Ben G Pletcher, Mathew T Warashina, Masaki Choe, Sun Hui Ziaee, Niusha Wiltshire, Tim Sauer, Karsten Cooke, Michael P Producer: 20040519 In: Proceedings of the National Academy of Sciences of the United States of America vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5031.	Identification of a major gene responsible for type 1 diabetes in the Komeda diabetes-prone rat. [electronic resource] by Yokoi, Norihide Producer: 20050712 In: Experimental animals vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5032.	Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice. [electronic resource] by Vignier, Nicolas Schlossarek, Saskia Fraysse, Bodvael Mearini, Giulia Krämer, Elisabeth Pointu, Hervé Mougenot, Nathalie Guiard, Josiane Reimer, Rudolph Hohenberg, Heinrich Schwartz, Ketty Vernet, Muriel Eschenhagen, Thomas Carrier, Lucie Producer: 20090828 In: Circulation research vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5033.	Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema. [electronic resource] by Faiyaz-Ul-Haque, Muhammad Al-Gazlan, Sulaiman Abalkhail, Halah A Al-Abdulatif, Ahmad Toulimat, Mohamed Peltekova, Iskra Khaliq, Agha M R Al-Dayel, Fouad Zaidi, Syed H E Producer: 20100222 In: International archives of allergy and immunology vol. 151 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5034.	Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease. [electronic resource] by Wang, Kiarong Zhao, Xiao Chan, Shelly Cil, Onur He, Ning Song, Xuewen Paterson, Andrew D Pei, York Producer: 20090611 In: Clinical journal of the American Society of Nephrology : CJASN vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5035.	Spondylocostal dysostosis associated with methylmalonic aciduria. [electronic resource] by Honjo, Rachel S Casella, Erasmo B Vieira, Maria A Bertola, Débora R Albano, Lilian M J Oliveira, Luiz A Nomachi, Shosuke Hanai, Junji Benoist, Jean-François Ellard, Sian Young, Elizabeth Kim, Chong A Producer: 20090709 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)
	5036.	Making sense in a nonsense reading frame: suppression of cardiac sodium channel dysfunction. [electronic resource] by Schulze-Bahr, Eric Producer: 20090917 In: Cardiovascular research vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5037.	Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation. [electronic resource] by Vierimaa, O Ebeling, T M L Kytölä, S Bloigu, R Eloranta, E Salmi, J Korpi-Hyövälti, E Niskanen, L Orvola, A Elovaara, E Gynther, A Sane, T Välimäki, M Ignatius, J Leisti, J Salmela, P I Producer: 20071119 In: European journal of endocrinology vol. 157 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5038.	New insights into impaired muscle glycogen synthesis. [electronic resource] by Groop, Leif Orho-Melander, Marju Producer: 20080306 In: PLoS medicine vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5039.	Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies. [electronic resource] by Hadj Salem, Ikhlass Kamoun, Fatma Louhichi, Nacim Rouis, Souad Mziou, Mariam Fendri-Kriaa, Nourhene Makni-Ayadi, Fatma Triki, Chahnez Fakhfakh, Faiza Producer: 20110311 In: Bioscience reports vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5040.	Mutational analysis of mononucleotide repeats in dual specificity tyrosine phosphatase genes in gastric and colon carcinomas with microsatellite instability. [electronic resource] by Song, Sang Yong Kang, Mi Ran Yoo, Nam Jin Lee, Sug Hyung Producer: 20100525 In: APMIS : acta pathologica, microbiologica, et immunologica Scandinavica vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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