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	2821.	The MECP2 gene mutation screening in Rett syndrome patients from Croatia. [electronic resource] by Matijević, Tanja Knezević, Jelena Barisić, Ingeborg Resić, Biserka Culić, Vida Pavelić, Jasminka Producer: 20070328 In: Annals of the New York Academy of Sciences vol. 1091 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2822.	Ethical and legal implications of genetic testing in androgen insensitivity syndrome. [electronic resource] by Berg, Jonathan S French, Shannon L McCullough, Laurence B Kleppe, Soledad Sutton, Vernon R Gunn, Sheila K Karaviti, Lefkothea P Producer: 20070411 In: The Journal of pediatrics vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2823.	Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development. [electronic resource] by Repessé, Y Slaoui, M Ferrandiz, D Gautier, P Costa, C Costa, J M Lavergne, J M Borel-Derlon, A Producer: 20071011 In: Journal of thrombosis and haemostasis : JTH vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2824.	Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A). [electronic resource] by Fajans, S S Bell, G I Producer: 20080327 In: Diabetologia vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2825.	Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. [electronic resource] by Kitajiri, S-I McNamara, R Makishima, T Husnain, T Zafar, A U Kittles, R A Ahmed, Z M Friedman, T B Riazuddin, S Griffith, A J Producer: 20080122 In: Clinical genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2826.	Classic pseudoxanthoma elasticum in a patient with sickle cell disease. [electronic resource] by van Meurs, Tim van Hagen, Johanna M van de Scheur, Martijn R Vermaat, Hester Ruijs, Marielle W G van den Hoogenband, Henk M Starink, Theo M Producer: 20070323 In: Journal of the American Academy of Dermatology vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2827.	The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context. [electronic resource] by Silva, Ana Luísa Pereira, Francisco J C Morgado, Ana Kong, Jian Martins, Rute Faustino, Paula Liebhaber, Stephen A Romão, Luísa Producer: 20070116 In: RNA (New York, N.Y.) vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2828.	A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. [electronic resource] by Xia, Xin-Yi Cui, Ying-Xia Zhou, Yu-Chun Zhou, Xin Shi, Yi-Chao Wei, Li Li, Xiao-Jun Huang, Yu-Feng Huang, Ting-Ting Producer: 20100114 In: Clinica chimica acta; international journal of clinical chemistry vol. 410 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2829.	APOBEC3G mRNA expression in exposed seronegative and early stage HIV infected individuals decreases with removal of exposure and with disease progression. [electronic resource] by Vázquez-Pérez, Joel A Ormsby, Christopher E Hernández-Juan, Ramón Torres, Klintsy J Reyes-Terán, Gustavo Producer: 20090413 In: Retrovirology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2830.	Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. [electronic resource] by Grant, Elizabeth A Trzupek, Karmen M Reiss, Jacob Crow, Kate Messiaen, Ludwine Weleber, Richard G Producer: 20080925 In: Ophthalmic genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2831.	The upstream open reading frame of the Arabidopsis AtMHX gene has a strong impact on transcript accumulation through the nonsense-mediated mRNA decay pathway. [electronic resource] by Saul, Helen Elharrar, Einat Gaash, Rachel Eliaz, Dror Valenci, Meital Akua, Tsofit Avramov, Meital Frankel, Neta Berezin, Irina Gottlieb, Dror Elazar, Meirav David-Assael, Ora Tcherkas, Vered Mizrachi, Keren Shaul, Orit Producer: 20100217 In: The Plant journal : for cell and molecular biology vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2832.	The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with the "blue" chicken plumage. [electronic resource] by Minvielle, Francis Bed'hom, Bertrand Coville, Jean-Luc Ito, Shin'ichi Inoue-Murayama, Miho Gourichon, David Producer: 20100415 In: BMC genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2833.	[Molecular study of retinoblastoma in the Algerian population. Screening of Rb gene in constitutional and tumoral level]. [electronic resource] by Boubekeur, Amina Louhibi, Lotfi Mahmoudi, Khadidja Boudjema, Abdallah Mehtar, Nadhira Producer: 20120316 In: Bulletin du cancer vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2834.	Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V. [electronic resource] by Kharrat, M Trabelsi, S Chaabouni, M Maazoul, F Kraoua, L Ben Jemaa, L Gandoura, N Barsaoui, S Morel, Y M'rad, R Chaabouni, H Producer: 20110308 In: Clinical genetics vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2835.	[CD81 has a key role in B lymphocyte function]. [electronic resource] by Smet, Julie van Zelm, Menno Schandené, Liliane Adams, Brigitte van der Burg, Mirjam Mascart, Françoise Producer: 20110421 In: Medecine sciences : M/S vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2836.	Rescue of nonsense mutations by amlexanox in human cells. [electronic resource] by Gonzalez-Hilarion, Sara Beghyn, Terence Jia, Jieshuang Debreuck, Nadège Berte, Gonzague Mamchaoui, Kamel Mouly, Vincent Gruenert, Dieter C Déprez, Benoit Lejeune, Fabrice Producer: 20130621 In: Orphanet journal of rare diseases vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2837.	Effect of cleidocranial dysplasia-related novel mutation of RUNX2 on characteristics of dental pulp cells and tooth development. [electronic resource] by Xuan, DongYing Sun, Xi Yan, YuXia Xie, BaoYi Xu, PingPing Zhang, JinCai Producer: 20110322 In: Journal of cellular biochemistry vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2838.	PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation. [electronic resource] by Tan, Lu Narayan, Srinivas B Chen, Jie Meyers, Gail Ditewig Bennett, Michael J Producer: 20110715 In: Journal of inherited metabolic disease vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2839.	Papillon-Lefèvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis. [electronic resource] by Ragunatha, Shivanna Ramesh, Mudalagirigowda Anupama, Panagar Kapoor, Meenakshi Bhat, Meenakshi Producer: 20151221 In: Pediatric dermatology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2840.	MLST-based inference of genetic diversity and population structure of clinical Klebsiella pneumoniae, China. [electronic resource] by Guo, Chenyi Yang, Xianwei Wu, Yarong Yang, Huiying Han, Yanping Yang, Ruifu Hu, Liangping Cui, Yujun Zhou, Dongsheng Producer: 20151103 In: Scientific reports vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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