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	2961.	Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency. [electronic resource] by Kim, Hee-Jung Kim, Hee-Jin Kwon, Eui-Hoon Lee, Ki-O Park, In-Ae Kim, Sun-Hee Producer: 20110209 In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2962.	Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis. [electronic resource] by El Hayek, Donia Bouzidi, Hassan Pérez de Nanclares, Gustavo Soua, Habib Chibani, Jemni Ben Ariceta, Gema Castaño, Luis Khelil, Amel Haj Producer: 20140327 In: Clinical nephrology vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2963.	Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation. [electronic resource] by Williams, Fred Hunter, Steven Bradley, Lisa Chahal, Harvinder S Storr, Helen L Akker, Scott A Kumar, Ajith V Orme, Stephen M Evanson, Jane Abid, Noina Morrison, Patrick J Korbonits, Márta Atkinson, A Brew Producer: 20140603 In: The Journal of clinical endocrinology and metabolism vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2964.	One-shot, one cure with genome editing for dyslipidemia. [electronic resource] by Gupta, Rajat M Producer: 20150519 In: Circulation. Cardiovascular genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2965.	Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease. [electronic resource] by Lee, Cheng Hiang Hsu, Peter Nanan, Brigitte Nanan, Ralph Wong, Melanie Gaskin, Kevin J Leong, Rupert W Murchie, Ryan Muise, Aleixo M Stormon, Michael O Producer: 20150831 In: Journal of Crohn's & colitis vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2966.	Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. [electronic resource] by Han, Lian-Shu Huang, Zhuo Han, Feng Ye, Jun Qiu, Wen-Juan Zhang, Hui-Wen Wang, Yu Gong, Zhu-Wen Gu, Xue-Fan Producer: 20160718 In: World journal of pediatrics : WJP vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2967.	Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. [electronic resource] by Record, Julien Malinova, Dessislava Zenner, Helen L Plagnol, Vincent Nowak, Karolin Syed, Farhatullah Bouma, Gerben Curtis, James Gilmour, Kimberly Cale, Catherine Hackett, Scott Charras, Guillaume Moulding, Dale Nejentsev, Sergey Thrasher, Adrian J Burns, Siobhan O Producer: 20151221 In: Blood vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2968.	Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex. [electronic resource] by He, Yinghong Leppert, Juna Steinke, Holger Has, Cristina Producer: 20180417 In: Acta dermato-venereologica vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2969.	Electrochemotherapy for Non-melanoma Skin Cancer in a Child with Xeroderma Pigmentosum. [electronic resource] by Baltás, Eszter Kis, Erika Nagy, Nikoletta Sohár, Nicolette Varga, Erika Széll, Márta Kemény, Lajos Oláh, Judit Producer: 20180827 In: Acta dermato-venereologica vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2970.	SMARCA4-deficient thoracic sarcoma: report of a case and insights into how to reach the diagnosis using limited samples and resources. [electronic resource] by Kuwamoto, Satoshi Matsushita, Michiko Takeda, Kenichi Tanaka, Natsumi Endo, Yukari Yamasaki, Akira Kohashi, Kenichi Oda, Yoshinao Horie, Yasushi Producer: 20181015 In: Human pathology vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2971.	[Differences of Nonsense-Mediated mRNA Degradation Activity in Mammalian Cell Lines Revealed by a Fluorescence Reporter]. [electronic resource] by Pereverzev, A P Matlashov, M E Staroverov, D B Lukyanov, K A Gurskaya, N G Producer: 20160428 In: Bioorganicheskaia khimiia vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2972.	A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences. [electronic resource] by Ivaškevičius, V Rühl, H Detarsio, G Biswas, A Gupta, S Davoli, M Quartara, A Pérez, S Raviola, M Oldenburg, J Producer: 20170601 In: Hamostaseologie vol. 36 Availability: No items available. Save to lists Add to cart (remove)
	2973.	Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. [electronic resource] by Abbasi, Ansar A Blaesius, Kathrin Hu, Hao Latif, Zahid Picker-Minh, Sylvie Khan, Muhammad N Farooq, Sundas Khan, Muzammil A Kaindl, Angela M Producer: 20180216 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 174 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2974.	Allelic variation of the rice blast resistance gene Pid3 in cultivated rice worldwide. [electronic resource] by Lv, Qiming Huang, Zhiyuan Xu, Xiao Tang, Li Liu, Hai Wang, Chunchao Zhou, Zhuangzhi Xin, Yeyun Xing, Junjie Peng, Zhirong Li, Xiaobing Zheng, Tianqing Zhu, Lihuang Producer: 20190503 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2975.	Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease. [electronic resource] by Vilariño-Güell, Carles Zimprich, Alexander Martinelli-Boneschi, Filippo Herculano, Bruno Wang, Zhe Matesanz, Fuencisla Urcelay, Elena Vandenbroeck, Koen Leyva, Laura Gris, Denis Massaad, Charbel Quandt, Jacqueline A Traboulsee, Anthony L Encarnacion, Mary Bernales, Cecily Q Follett, Jordan Yee, Irene M Criscuoli, Maria G Deutschländer, Angela Reinthaler, Eva M Zrzavy, Tobias Mascia, Elisabetta Zauli, Andrea Esposito, Federica Alcina, Antonio Izquierdo, Guillermo Espino-Paisán, Laura Mena, Jorge Antigüedad, Alfredo Urbaneja-Romero, Patricia Ortega-Pinazo, Jesús Song, Weihong Sadovnick, A Dessa Producer: 20191106 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2976.	Genetic and animal model analyses reveal the pathogenic role of a novel deletion of RELN in schizophrenia. [electronic resource] by Sobue, Akira Kushima, Itaru Nagai, Taku Shan, Wei Kohno, Takao Aleksic, Branko Aoyama, Yuki Mori, Daisuke Arioka, Yuko Kawano, Naoko Yamamoto, Maeri Hattori, Mitsuharu Nabeshima, Toshitaka Yamada, Kiyofumi Ozaki, Norio Producer: 20191104 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2977.	A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient. [electronic resource] by Park, K C Choi, H O Park, K H Kim, K H Eun, H C Producer: 20000414 In: Journal of human genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2978.	Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping. [electronic resource] by Di Blasi, C He, Y Morandi, L Cornelio, F Guicheney, P Mora, M Producer: 20010503 In: Brain : a journal of neurology vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2979.	Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. [electronic resource] by Levy-Nissenbaum, Etgar Betz, Regina C Frydman, Moshe Simon, Michel Lahat, Hadas Bakhan, Tengiz Goldman, Boleslaw Bygum, Anette Pierick, Monika Hillmer, Axel M Jonca, Nathalie Toribio, Jaime Kruse, Roland Dewald, Georg Cichon, Sven Kubisch, Christian Guerrin, Marina Serre, Guy Nöthen, Markus M Pras, Elon Producer: 20030703 In: Nature genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2980.	Mutations of p53 tumor suppressor gene in spontaneous canine mammary tumors. [electronic resource] by Lee, Chung-Ho Kweon, Oh-Kyeong Producer: 20030813 In: Journal of veterinary science vol. 3 Availability: No items available. Save to lists Add to cart (remove)

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