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	1461.	Association between filaggrin mutations and atopic dermatitis in Korean pregnant women. [electronic resource] by Lee, Da-Eun Park, So-Yeon Han, Jung-Yeol Ryu, Hyun-Mee Lee, Hee-Chul Han, Young Shin Producer: 20140116 In: International journal of dermatology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1462.	Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. [electronic resource] by Wu, L Q Hu, J J Xue, J J Liang, D S Producer: 20120202 In: Genetics and molecular research : GMR vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1463.	Cyanobacterial glucokinase complements the glucose sensing role of Arabidopsis thaliana hexokinase 1. [electronic resource] by Ryu, Jee-Youn Jeong, Seok-Won Kim, Soo Youn Ko, Yoonae Yoon, Sukjoon Choi, Sang-Bong Park, Youn-Il Producer: 20080905 In: Biochemical and biophysical research communications vol. 374 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1464.	Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene. [electronic resource] by Sergouniotis, P I Davidson, A E Sehmi, K Webster, A R Robson, A G Moore, A T Producer: 20111020 In: Eye (London, England) vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1465.	Colon cancer arising in an ulcer scar due to intestinal Behçet's disease. [electronic resource] by Yamada, Masayoshi Shiroeda, Hisakazu Nomura, Tomoe Hayashi, Ranji Sato, Katsuaki Tsutsumi, Mikihiro Arisawa, Tomiyasu Producer: 20110708 In: Internal medicine (Tokyo, Japan) vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1466.	Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients. [electronic resource] by Gan, De-Kang He, Chen-Liang Shu, Hai-Rong Hoffman, Matthew R Jin, Zi-Bing Producer: 20111214 In: Neuroscience letters vol. 500 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1467.	A novel EIF2AK3 mutation leading to Wolcott-Rallison syndrome in a Chinese child. [electronic resource] by Sang, Yanmei Liu, Min Yang, Wenli Yan, Jie Ni, Guichen Producer: 20110705 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1468.	Endogenous ribosomal frameshift signals operate as mRNA destabilizing elements through at least two molecular pathways in yeast. [electronic resource] by Belew, Ashton T Advani, Vivek M Dinman, Jonathan D Producer: 20110704 In: Nucleic acids research vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1469.	[A new DNA diagnostic system for the detection of human CYP21 gene mutations associated with adrenal cortex hyperplasia]. [electronic resource] by Barannik, A P Koltunova, A A Ozolinia, L A Lavrova, N V Shilov, I A Guzov, I I Patrushev, L I Producer: 20100805 In: Bioorganicheskaia khimiia vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1470.	Nonsense-mediated mRNA decay maintains translational fidelity by limiting magnesium uptake. [electronic resource] by Johansson, Marcus J O Jacobson, Allan Producer: 20100810 In: Genes & development vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1471.	Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. [electronic resource] by El Shamieh, Said Neuillé, Marion Terray, Angélique Orhan, Elise Condroyer, Christel Démontant, Vanessa Michiels, Christelle Antonio, Aline Boyard, Fiona Lancelot, Marie-Elise Letexier, Mélanie Saraiva, Jean-Paul Léveillard, Thierry Mohand-Saïd, Saddek Goureau, Olivier Sahel, José-Alain Zeitz, Christina Audo, Isabelle Producer: 20140530 In: American journal of human genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1472.	Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. [electronic resource] by Serwas, Nina Kathrin Kansu, Aydan Santos-Valente, Elisangela Kuloğlu, Zarife Demir, Arzu Yaman, Aytaç Gamez Diaz, Laura Yaneth Artan, Reha Sayar, Ersin Ensari, Arzu Grimbacher, Bodo Boztug, Kaan Producer: 20150915 In: Inflammatory bowel diseases vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1473.	Long-term nonsense suppression therapy moderates MPS I-H disease progression. [electronic resource] by Gunn, Gwen Dai, Yanying Du, Ming Belakhov, Valery Kandasamy, Jeyakumar Schoeb, Trenton R Baasov, Timor Bedwell, David M Keeling, Kim M Producer: 20150212 In: Molecular genetics and metabolism vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1474.	Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation. [electronic resource] by Ranjan, Pratyush Mishra, Deepak Plesec, Thomas Pratap, Vir B Singh, Arun D Producer: 20160223 In: Ophthalmic genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1475.	Generating SM(a)RTer compounds for translation termination suppression in A-T and other genetic disorders. [electronic resource] by Lavin, Martin F Producer: 20140326 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1476.	Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients. [electronic resource] by No, Daniel Valles-Ayoub, Yadira Carbajo, Rosangela Khokher, Zeshan Sandoval, Lucia Stein, Beth Tarnopolsky, Mark Andrew Mozaffar, Tahseen Darvish, Babak Pietruszka, Marvin Darvish, Daniel Producer: 20131030 In: Genetic testing and molecular biomarkers vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1477.	Development and characterization of low α-linolenic acid Brassica oleracea lines bearing a novel mutation in a 'class a' FATTY ACID DESATURASE 3 gene. [electronic resource] by Singer, Stacy D Weselake, Randall J Rahman, Habibur Producer: 20141016 In: BMC genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1478.	A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity. [electronic resource] by Philippe, J Stijnen, P Meyre, D De Graeve, F Thuillier, D Delplanque, J Gyapay, G Sand, O Creemers, J W Froguel, P Bonnefond, A Producer: 20151103 In: International journal of obesity (2005) vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1479.	New p53 mutations in canine skin tumours. [electronic resource] by Jasik, A Reichert, M Producer: 20120206 In: The Veterinary record vol. 169 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1480.	Rhodoid naevus syndrome: why is this name preferable to 'capillary malformation-arteriovenous malformation'? [electronic resource] by Panzer, R Happle, R Fölster-Holst, R Producer: 20190701 In: Journal of the European Academy of Dermatology and Venereology : JEADV vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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