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	2761.	Therapeutic suppression of premature termination codons: mechanisms and clinical considerations (review). [electronic resource] by Karijolich, John Yu, Yi-Tao Producer: 20150212 In: International journal of molecular medicine vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2762.	Three hundred and seventy-two novel HLA class II alleles identified in potential hematopoietic stem cell donors from Germany, the United States, and Poland. [electronic resource] by Hernández-Frederick, C J Cereb, N Giani, A S Ruppel, J Maraszek, A Pingel, J Sauter, J Schmidt, A H Yang, S Y Producer: 20150629 In: Tissue antigens vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2763.	A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. [electronic resource] by Seven, Mehmet Koparir, Erkan Gezdirici, Alper Aydin, Hatip Skladny, Heyko Fenercioğlu, Elif Güven, Gülgün Karataş, Ömer Faruk Koparir, Asuman Özen, Mustafa Ulucan, Hakan Producer: 20140721 In: Clinical dysmorphology vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2764.	Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome. [electronic resource] by Arimoto, Yukiko Namba, Kazunori Nakano, Atsuko Matsunaga, Tatsuo Producer: 20140514 In: Gene vol. 540 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2765.	Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. [electronic resource] by Ercan-Sencicek, A Gulhan Jambi, Samira Franjic, Daniel Nishimura, Sayoko Li, Mingfeng El-Fishawy, Paul Morgan, Thomas M Sanders, Stephan J Bilguvar, Kaya Suri, Mohnish Johnson, Michele H Gupta, Abha R Yuksel, Zafer Mane, Shrikant Grigorenko, Elena Picciotto, Marina Alberts, Arthur S Gunel, Murat Šestan, Nenad State, Matthew W Producer: 20150929 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2766.	GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia. [electronic resource] by Fan, Zheng Greenwood, Robert Felix, Ana C G Shiloh-Malawsky, Yael Tennison, Michael Roche, Myra Crooks, Kristy Weck, Karen Wilhelmsen, Kirk Berg, Jonathan Evans, James Producer: 20141223 In: Journal of neurology vol. 261 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2767.	Detection of premature stop codons leading to truncated internalin A among food and clinical strains of Listeria monocytogenes. [electronic resource] by Ferreira da Silva, Margarida Ferreira, Vânia Magalhães, Rui Almeida, Gonçalo Alves, Artur Teixeira, Paula Producer: 20170307 In: Food microbiology vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2768.	Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. [electronic resource] by Ralser, Damian J Basmanav, F Buket Ü Tafazzoli, Aylar Wititsuwannakul, Jade Delker, Sarah Danda, Sumita Thiele, Holger Wolf, Sabrina Busch, Michélle Pulimood, Susanne A Altmüller, Janine Nürnberg, Peter Lacombe, Didier Hillen, Uwe Wenzel, Jörg Frank, Jorge Odermatt, Benjamin Betz, Regina C Producer: 20170912 In: The Journal of clinical investigation vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2769.	A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle. [electronic resource] by Pausch, Hubert Ammermüller, Simon Wurmser, Christine Hamann, Henning Tetens, Jens Drögemüller, Cord Fries, Ruedi Producer: 20170921 In: BMC genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2770.	Analysis of Nonsense-Mediated mRNA Decay at the Single-Cell Level Using Two Fluorescent Proteins. [electronic resource] by Gurskaya, N G Pereverzev, A P Staroverov, D B Markina, N M Lukyanov, K A Producer: 20170619 In: Methods in enzymology vol. 572 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2771.	The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene. [electronic resource] by Farkas, Katalin Deák, Barbara Kocsis Sánchez, Laura Cubells Martínez, Ana Mercedes Victoria Corell, Juan José Vilata Botella, Alfredo Montoro Benito, Goitzane Marcaida López, Raquel Rodríguez Vanecek, Tomas Kazakov, Dmitry V Kromosoeto, Joan N R van den Ouweland, Ans M W Varga, János Széll, Márta Nagy, Nikoletta Producer: 20161019 In: BMC genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2772.	Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. [electronic resource] by Fradin, Mélanie Colin, Estelle Hannouche-Bared, Daniele Audo, Isabelle Sahel, Jose Alain Biskup, Saskia Carré, Wilfried Ziegler, Alban Wilhelm, Christian Guichet, Agnès Odent, Sylvie Bonneau, Dominique Producer: 20171117 In: Ophthalmic genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2773.	Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. [electronic resource] by Wu, Yuan Zheng, Yajie Yan, Xiaoming Huang, Yu Jiang, Yuwu Li, Haili Producer: 20171113 In: Ophthalmic genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2774.	A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study. [electronic resource] by Kim, Bong Jik Han, Jin Hee Park, Hye-Rim Kim, Min Young Kim, Ah Reum Oh, Seung-Ha Park, Woong-Yang Oh, Doo Yi Lee, Seungmin Choi, Byung Yoon Producer: 20190925 In: The journal of gene medicine vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2775.	Nonsense mutation-dependent reinitiation of translation in mammalian cells. [electronic resource] by Cohen, Sarit Kramarski, Lior Levi, Shahar Deshe, Noa Ben David, Oshrit Arbely, Eyal Producer: 20200225 In: Nucleic acids research vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2776.	Cytologic Features of SMARCA4-Deficient Thoracic Sarcoma: A Case Report and Comparison with Other SWI/SNF Complex-Deficient Tumors. [electronic resource] by Matsushita, Michiko Kuwamoto, Satoshi Producer: 20190107 In: Acta cytologica vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2777.	A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. [electronic resource] by Abdulkareem, Angham Abdulrahman Abulnaja, Khalid Omar Jan, Mohammad M Karim, Sajjad Rasool, Mahmood Ansari, Shakeel Ahmed Chaudhary, Adeel G Al-Qahtani, Mohammad H Naseer, Muhammad Imran Producer: 20190311 In: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2778.	de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation. [electronic resource] by Schneeberger, Pauline E Bierhals, Tatjana Neu, Axel Hempel, Maja Kutsche, Kerstin Producer: 20201028 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2779.	Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. [electronic resource] by Beijer, Danique Deconinck, Tine De Bleecker, Jan L Dotti, Maria Teresa Malandrini, Alessandro Urtizberea, J Andoni Zulaica, Miren López de Munain, Adolfo Asselbergh, Bob De Jonghe, Peter Baets, Jonathan Producer: 20200512 In: Brain : a journal of neurology vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2780.	A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans. [electronic resource] by Zabetian, Cyrus P Romero, Roberto Robertson, David Sharma, Surendra Padbury, James F Kuivaniemi, Helena Kim, Kwang-Soo Kim, Chun-Hyung Köhnke, Michael D Kranzler, Henry R Gelernter, Joel Cubells, Joseph F Producer: 20040716 In: American journal of medical genetics. Part A vol. 123A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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