Your search returned 5852 results.

Results
	2601.	Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency. [electronic resource] by Lunghi, Barbara Pinotti, Mirko Maestri, Iva Batorova, Angelika Bernardi, Francesco Producer: 20080703 In: Haematologica vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2602.	A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. [electronic resource] by Zhang, Junyu Liu, Hongbin Liu, Zhiyuan Liao, Yong Guo, Luo Wang, Honglian He, Lin Zhang, Xiaodong Xing, Qinghe Producer: 20130703 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2603.	Sequential RNA degradation pathways provide a fail-safe mechanism to limit the accumulation of unspliced transcripts in Saccharomyces cerevisiae. [electronic resource] by Sayani, Shakir Chanfreau, Guillaume F Producer: 20121002 In: RNA (New York, N.Y.) vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2604.	Cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation. [electronic resource] by Eminoglu, Tuba Fatma Polat, Emine Gökçe, Selim Ezgü, Fatih Süheyl Senel, Saliha Apaydin, Sema Producer: 20140317 In: Indian journal of pediatrics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2605.	X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients. [electronic resource] by Tsai, Hu-Yuan Yu, Hsin-Hui Chien, Yin-Hsiu Chu, Kuan-Hua Lau, Yu-Lung Lee, Jyh-Hong Wang, Li-Chieh Chiang, Bor-Luen Yang, Yao-Hsu Producer: 20151001 In: Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2606.	Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. [electronic resource] by Fabre, Alexandre Martinez-Vinson, Christine Roquelaure, Bertrand Missirian, Chantal André, Nicolas Breton, Anne Lachaux, Alain Odul, Egritas Colomb, Virginie Lemale, Julie Cézard, Jean-Pierre Goulet, Olivier Sarles, Jacques Levy, Nicolas Badens, Catherine Producer: 20120327 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2607.	A case of classical galactosemia: identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family. [electronic resource] by Singh, Ramandeep Kaur, Gurjit Thapa, Babu R Prasad, Rajendra Kulkarni, Ketan Producer: 20120308 In: Indian journal of pediatrics vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2608.	A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis. [electronic resource] by Nytofte, Nikolaj S Serrano, Maria A Monte, Maria J Gonzalez-Sanchez, Ester Tumer, Zeynep Ladefoged, Karin Briz, Oscar Marin, Jose J G Producer: 20110729 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2609.	Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. [electronic resource] by Dyment, David A Smith, Amanda C Humphreys, Peter Schwartzentruber, Jeremy Beaulieu, Chandree L Bulman, Dennis E Majewski, Jacek Woulfe, John Michaud, Jean Boycott, Kym M Producer: 20150921 In: Neurobiology of aging vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2610.	First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? [electronic resource] by Wamelink, Mirjam M C Ramos, Ruben J J F van den Elzen, Annette P M Ruijter, George J G Bonte, Ramon Diogo, Luisa Garcia, Paula Neves, Nelson Nota, Benjamin Haschemi, Arvand Tavares de Almeida, Isabel Salomons, Gajja S Producer: 20160706 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2611.	Quality control of transcription start site selection by nonsense-mediated-mRNA decay. [electronic resource] by Malabat, Christophe Feuerbach, Frank Ma, Laurence Saveanu, Cosmin Jacquier, Alain Producer: 20160114 In: eLife vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2612.	Somatic mutation in the HLA-B gene of a patient with acute myelogenous leukaemia. [electronic resource] by Planelles, D Balas, A Gil, C Muñoz, C Rodríguez-Cebriá, M Vicario, J L Producer: 20180116 In: HLA vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2613.	Identification of Two Novel LAMP2 Gene Mutations in Danon Disease. [electronic resource] by Csányi, Beáta Popoiu, Anca Hategan, Lidia Hegedűs, Zoltán Nagy, Viktória Rácz, Katalin Hőgye, Márta Sághy, László Iványi, Béla Csanády, Miklós Forster, Tamás Sepp, Róbert Producer: 20170717 In: The Canadian journal of cardiology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2614.	LasR Variant Cystic Fibrosis Isolates Reveal an Adaptable Quorum-Sensing Hierarchy in Pseudomonas aeruginosa. [electronic resource] by Feltner, John B Wolter, Daniel J Pope, Christopher E Groleau, Marie-Christine Smalley, Nicole E Greenberg, E Peter Mayer-Hamblett, Nicole Burns, Jane Déziel, Eric Hoffman, Lucas R Dandekar, Ajai A Producer: 20170623 In: mBio vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2615.	NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. [electronic resource] by Fabbri, Helena C Ribeiro de Andrade, Juliana G Maciel-Guerra, Andréa T Guerra-Júnior, Gil de Mello, Maricilda P Producer: 20171121 In: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2616.	Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome. [electronic resource] by Ackerman, Jaeger P Smestad, John A Tester, David J Qureshi, Muhammad Y Crabb, Beau A Mendelsohn, Nancy J Ackerman, Michael J Producer: 20180126 In: Congenital heart disease vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2617.	Interaction of Prions Causes Heritable Traits in Saccharomyces cerevisiae. [electronic resource] by Nizhnikov, Anton A Ryzhova, Tatyana A Volkov, Kirill V Zadorsky, Sergey P Sopova, Julia V Inge-Vechtomov, Sergey G Galkin, Alexey P Producer: 20170509 In: PLoS genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2618.	The role of nucleotide composition in premature termination codon recognition. [electronic resource] by Zahdeh, Fouad Carmel, Liran Producer: 20170727 In: BMC bioinformatics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2619.	QTL mapping and molecular characterization of the classical D locus controlling seed and flower color in Linum usitatissimum (flax). [electronic resource] by Sudarshan, Gurudatt Pavagada Kulkarni, Manoj Akhov, Leonid Ashe, Paula Shaterian, Hamid Cloutier, Sylvie Rowland, Gordon Wei, Yangdou Selvaraj, Gopalan Producer: 20190703 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2620.	[Genetic Diagnosis and Molecular Therapies for Duchenne Muscular Dystrophy]. [electronic resource] by Takeshima, Yasuhiro Producer: 20160321 In: Rinsho byori. The Japanese journal of clinical pathology vol. 63 Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.