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	1061.	The SNP g.1311T>C associated with the absence of β-casein in goat milk influences CSN2 promoter activity. [electronic resource] by Cosenza, G Iannaccone, M Pico, B A Ramunno, L Capparelli, R Producer: 20161230 In: Animal genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1062.	An Evolutionarily Conserved Role of Presenilin in Neuronal Protection in the Aging [electronic resource] by Kang, Jongkyun Shin, Sarah Perrimon, Norbert Shen, Jie Producer: 20171019 In: Genetics vol. 206 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1063.	[New developments in the management of congenital epidermolysis bullosa]. [electronic resource] by Murrell, D Producer: 20181211 In: Annales de dermatologie et de venereologie vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1064.	Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria. [electronic resource] by Abily-Donval, Lenaig Torre, Stéphanie Samson, Aurélie Sudrié-Arnaud, Bénédicte Acquaviva, Cécile Guerrot, Anne-Marie Benoist, Jean-François Marret, Stéphane Bekri, Soumeya Tebani, Abdellah Producer: 20180702 In: International journal of molecular sciences vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1065.	Circulating Truncated Alpha-1 Antitrypsin Glycoprotein in Patient Plasma Retains Anti-Inflammatory Capacity. [electronic resource] by Reeves, Emer P Dunlea, Danielle M McQuillan, Karen O'Dwyer, Ciara A Carroll, Tomás P Saldova, Radka Akepati, Prithvi Reddy Wormald, Mark R McElvaney, Oliver J Shutchaidat, Vipatsorn Henry, Michael Meleady, Paula Keenan, Joanne Liberti, Derek C Kotton, Darrell N Rudd, Pauline M Wilson, Andrew A McElvaney, Noel G Producer: 20191227 In: Journal of immunology (Baltimore, Md. : 1950) vol. 202 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1066.	Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. [electronic resource] by Morgan, Anna Vuckovic, Dragana Krishnamoorthy, Navaneethakrishnan Rubinato, Elisa Ambrosetti, Umberto Castorina, Pierangela Franzè, Annamaria Vozzi, Diego La Bianca, Martina Cappellani, Stefania Di Stazio, Mariateresa Gasparini, Paolo Girotto, Giorgia Producer: 20190411 In: European journal of human genetics : EJHG vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1067.	Schopf-Schulz-Passarge syndrome: a rare ectodermal dysplasia with a delayed diagnosis. [electronic resource] by Ismail, Fathima F McGrath, John Sinclair, Rodney Producer: 20201117 In: International journal of dermatology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1068.	Comparison of the effects of a kinase-dead mutation of FERONIA on ovule fertilization and root growth of Arabidopsis. [electronic resource] by Haruta, Miyoshi Gaddameedi, Vilas Burch, Heather Fernandez, Donna Sussman, Michael R Producer: 20190624 In: FEBS letters vol. 592 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1069.	[Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome]. [electronic resource] by Liu, Yuefang Ding, Jing Peng, Yuan Liang, Zhe Yan, Nannan Jin, Xin Fang, Fang Weng, Xiaojing Pan, Qiong Producer: 20200402 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1070.	The association of nonsense codons with exon skipping. [electronic resource] by Valentine, C R Producer: 19981106 In: Mutation research vol. 411 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1071.	Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. [electronic resource] by Franz, W M Müller, M Müller, O J Herrmann, R Rothmann, T Cremer, M Cohn, R D Voit, T Katus, H A Producer: 20000627 In: Lancet (London, England) vol. 355 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1072.	Elastin: mutational spectrum in supravalvular aortic stenosis. [electronic resource] by Metcalfe, K Rucka, A K Smoot, L Hofstadler, G Tuzler, G McKeown, P Siu, V Rauch, A Dean, J Dennis, N Ellis, I Reardon, W Cytrynbaum, C Osborne, L Yates, J R Read, A P Donnai, D Tassabehji, M Producer: 20010222 In: European journal of human genetics : EJHG vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1073.	Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome. [electronic resource] by Frishberg, Yaacov Rinat, Choni Feinstein, Sofia Becker-Cohen, Rachel Megged, Orli Schlesinger, Yechiel Producer: 20031203 In: Pediatric nephrology (Berlin, Germany) vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1074.	Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa. [electronic resource] by Liu, L Jin, L Liu, M Wei, Y Wu, X Liu, Y Wang, H Chu, R Chai, J Producer: 20000825 In: Human mutation vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1075.	Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient. [electronic resource] by Spitzer, E Staab, D Hanke, R Wahn, U Grosse, R Producer: 20020822 In: The European respiratory journal vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1076.	The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. [electronic resource] by van Engelen, B G M Muchir, A Hutchison, C J van der Kooi, A J Bonne, G Lammens, M Producer: 20050920 In: Neurology vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1077.	Stop-codon read-through for patients affected by a lysosomal storage disorder. [electronic resource] by Brooks, Doug A Muller, Viv J Hopwood, John J Producer: 20061017 In: Trends in molecular medicine vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1078.	Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase. [electronic resource] by Dreumont, Natacha Maresca, Antonella Khandjian, Edward W Baklouti, Faouzi Tanguay, Robert M Producer: 20041228 In: Biochemical and biophysical research communications vol. 324 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1079.	[Mutation detection of PKD1 gene in patients with autosomal dominant polycystic kidney diseases]. [electronic resource] by Li, Li Li, Lu-yun Zhong, Chang-gao Gao, Bo-di Lu, Guang-xiu Producer: 20090427 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 24 Availability: No items available. Save to lists Add to cart (remove)
	1080.	A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B. [electronic resource] by Niceta, Marcello Fabiano, Carmelo Sammarco, Pietro Gagliano, Fabio Mancuso, Giacomo Producer: 20070214 In: Internal and emergency medicine vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.