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	361.	New GATA1 mutation in codon 2 leads to the earliest known premature stop codon in transient myeloproliferative disorder. [electronic resource] by Hoeller, Sylvia Bihl, Michel P Tzankov, Alexandar Kuehne, Thomas Potthoff, Christian Bruder, Elisabeth Producer: 20091117 In: Blood vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	362.	Novel cardiac findings in periventricular nodular heterotopia. [electronic resource] by Jefferies, John L Taylor, Michael D Rossano, Joseph Belmont, John W Craigen, William J Producer: 20100405 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	363.	Gene symbol: VWF. Disease: Von Willebrand disease? [electronic resource] by Mueller, O Thomas Producer: 20101124 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)
	364.	Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile. [electronic resource] by Riveiro-Alvarez, Rosa Cantalapiedra, D Vallespin, E Aguirre-Lamban, J Avila-Fernandez, A Gimenez-Pardo, A Trujillo-Tiebas, M J Ayuso, C Producer: 20101124 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)
	365.	Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl. [electronic resource] by Di Pasquale, L Indovina, S Wasniewska, M Mirabelli, S Porcelli, P Rulli, I Salzano, G De Luca, F Producer: 20080205 In: Journal of endocrinological investigation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	366.	Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome. [electronic resource] by Boztug, K Germeshausen, M Avedillo Díez, I Gulacsy, V Diestelhorst, J Ballmaier, M Welte, K Maródi, L Chernyshova, Li Klein, C Producer: 20080926 In: Clinical genetics vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	367.	Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl. [electronic resource] by Chalumeau, Martin Monnet, Dominique Brézin, Antoine P Gendrel, Dominique Casanova, Jean-Laurent Gérard, Bénédicte Chollet-Martin, Sylvie Producer: 20081118 In: European journal of pediatrics vol. 166 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	368.	Tethering assays to investigate nonsense-mediated mRNA decay activating proteins. [electronic resource] by Gehring, Niels H Hentze, Matthias W Kulozik, Andreas E Producer: 20090123 In: Methods in enzymology vol. 448 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	369.	Ataluren as an agent for therapeutic nonsense suppression. [electronic resource] by Peltz, Stuart W Morsy, Manal Welch, Ellen M Jacobson, Allan Producer: 20130702 In: Annual review of medicine vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	370.	Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer. [electronic resource] by Snape, Katie Ruark, Elise Tarpey, Patrick Renwick, Anthony Turnbull, Clare Seal, Sheila Murray, Anne Hanks, Sandra Douglas, Jenny Stratton, Michael R Rahman, Nazneen Producer: 20121119 In: Breast cancer research and treatment vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	371.	ASYMMETRIC LEAVES1 regulates abscission zone placement in Arabidopsis flowers. [electronic resource] by Gubert, Catherine M Christy, Megan E Ward, Denise L Groner, William D Liljegren, Sarah J Producer: 20150514 In: BMC plant biology vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	372.	First study of the C2491t nonsense mutation frequency in moroccan healthy population. [electronic resource] by Hamzi, K Diakité, B Hmimech, W Nadifi, S Producer: 20140530 In: Journal of molecular neuroscience : MN vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	373.	Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. [electronic resource] by Reddy, Hemakumar M Hamed, Sherifa A Lek, Monkol Mitsuhashi, Satomi Estrella, Elicia Jones, Michael D Mahoney, Lane J Duncan, Anna R Cho, Kyung-Ah Macarthur, Daniel G Kunkel, Louis M Kang, Peter B Producer: 20170703 In: Muscle & nerve vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	374.	A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib [electronic resource] by Galli-Tsinopoulou, Assimina Kotanidou, Eleni P Kleisarchaki, Aggeliki N Kauli, Rivka Laron, Zvi Producer: 20181105 In: Journal of clinical research in pediatric endocrinology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	375.	Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype. [electronic resource] by Moore, Rebecca S Tirupathi, Sandya Herron, Brian Sands, Andrew Morrison, Patrick J Producer: 20181221 In: The Ulster medical journal vol. 86 Availability: No items available. Save to lists Add to cart (remove)
	376.	p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease. [electronic resource] by Ozelsancak, Ruya Uyar, Bulent Producer: 20161213 In: The American journal of case reports vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	377.	CHARGE syndrome with oculomotor nerve palsy. [electronic resource] by Yang, Hee Kyung Choi, Byung Yoon Kim, Jae Hyoung Koo, Ja-Won Chang, Mun Young Hwang, Jeong-Min Producer: 20160722 In: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	378.	A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations. [electronic resource] by Zhu, Yingchuan Tan, Hao Zeng, Jiarong Tao, Dachang Ma, Yongxin Liu, Yunqiang Producer: 20190513 In: Genes & genomics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	379.	A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect. [electronic resource] by Masingue, Marion Fauré, Julien Solé, Guilhem Stojkovic, Tanya Léonard-Louis, Sarah Producer: 20200513 In: Neuromuscular disorders : NMD vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	380.	Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. [electronic resource] by Mercuri, Eugenio Muntoni, Francesco Osorio, Andrés Nascimento Tulinius, Már Buccella, Filippo Morgenroth, Lauren P Gordish-Dressman, Heather Jiang, Joel Trifillis, Panayiota Zhu, Jin Kristensen, Allan Santos, Claudio L Henricson, Erik K McDonald, Craig M Desguerre, Isabelle Producer: 20210401 In: Journal of comparative effectiveness research vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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