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	3941.	Alagille Syndrome Mimicking Biliary Atresia in Early Infancy. [electronic resource] by Dědič, Tomáš Jirsa, Milan Keil, Radan Rygl, Michal Šnajdauf, Jiri Kotalová, Radana Producer: 20160701 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3942.	Sequential cleavage of the proteins encoded by HNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, results in products acting in distinct cellular compartments. [electronic resource] by Hacker, Benedikt Schultheiß, Christoph Kurzik-Dumke, Ursula Producer: 20190508 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3943.	A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia. [electronic resource] by Saygı, Ceren Alanay, Yasemin Sezerman, Uğur Yenenler, Aslı Özören, Nesrin Producer: 20190819 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3944.	An Automated Data-Driven Pipeline for Improving Heterologous Enzyme Expression. [electronic resource] by Wrenbeck, Emily E Bedewitz, Matthew A Klesmith, Justin R Noshin, Syeda Barry, Cornelius S Whitehead, Timothy A Producer: 20200406 In: ACS synthetic biology vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3945.	Genetic and phenotypic variability between families with hereditary protein S deficiency. [electronic resource] by Rezende, Suely M Lane, David A Zöller, Bengt Mille-Baker, Blandine Laffan, Mike Dahlbäck, Björn Simmonds, Rachel E Producer: 20020906 In: Thrombosis and haemostasis vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3946.	Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. [electronic resource] by Meyer, Peter Voigtlaender, Theda Bartram, Claus R Klaes, Ruediger Producer: 20031027 In: Human mutation vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3947.	A nonsense mutation in the alpha1 subunit of the inhibitory glycine receptor associated with bovine myoclonus. [electronic resource] by Pierce, K D Handford, C A Morris, R Vafa, B Dennis, J A Healy, P J Schofield, P R Producer: 20010510 In: Molecular and cellular neurosciences vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3948.	A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. [electronic resource] by Bauer, J W Rouan, F Kofler, B Rezniczek, G A Kornacker, I Muss, W Hametner, R Klausegger, A Huber, A Pohla-Gubo, G Wiche, G Uitto, J Hintner, H Producer: 20010405 In: The American journal of pathology vol. 158 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3949.	Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population. [electronic resource] by Ogawa, A Yamamoto, S Kanazawa, M Ogawa, E Takayanagi, M Hasegawa, S Kohno, Y Producer: 20001030 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)
	3950.	PIT1 abnormality. [electronic resource] by Tatsumi, K Amino, N Producer: 19991130 In: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society vol. 9 Suppl B Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3951.	Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans. [electronic resource] by Baumann, G Producer: 19991130 In: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society vol. 9 Suppl B Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3952.	Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay. [electronic resource] by Kashima, Isao Yamashita, Akio Izumi, Natsuko Kataoka, Naoyuki Morishita, Ryo Hoshino, Shinichi Ohno, Mutsuhito Dreyfuss, Gideon Ohno, Shigeo Producer: 20060410 In: Genes & development vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3953.	Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. [electronic resource] by Ebenezer, Neil D Michaelides, Michel Jenkins, Sharon A Audo, Isabelle Webster, Andrew R Cheetham, Michael E Stockman, Andrew Maher, Eamonn R Ainsworth, John R Yates, John R Bradshaw, Keith Holder, Graham E Moore, Anthony T Hardcastle, Alison J Producer: 20050721 In: Investigative ophthalmology & visual science vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3954.	[Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4]. [electronic resource] by Lehnert, T Küry, S Bürk, G Hoepffner, W Schuster, V Producer: 20061027 In: Klinische Padiatrie vol. 218 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3955.	Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour. [electronic resource] by Massa, Guy Roggen, Nele Renard, Marleen Gille, Johan J P 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)
	3956.	Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. [electronic resource] by den Hollander, Anneke I Koenekoop, Robert K Mohamed, Moin D Arts, Heleen H Boldt, Karsten Towns, Katherine V Sedmak, Tina Beer, Monika Nagel-Wolfrum, Kerstin McKibbin, Martin Dharmaraj, Sharola Lopez, Irma Ivings, Lenka Williams, Grange A Springell, Kelly Woods, C Geoff Jafri, Hussain Rashid, Yasmin Strom, Tim M van der Zwaag, Bert Gosens, Ilse Kersten, Ferry F J van Wijk, Erwin Veltman, Joris A Zonneveld, Marijke N van Beersum, Sylvia E C Maumenee, Irene H Wolfrum, Uwe Cheetham, Michael E Ueffing, Marius Cremers, Frans P M Inglehearn, Chris F Roepman, Ronald Producer: 20070904 In: Nature genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3957.	Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention. [electronic resource] by Lim, L C Tan, M H Eng, C Teh, B T Rajasoorya, R C Producer: 20060427 In: Journal of internal medicine vol. 259 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3958.	Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. [electronic resource] by Wang, Xin Huang, Qi-Quan Breckenridge, Mark T Chen, Aihua Crawford, Thomas O Morton, D Holmes Jin, Jian-Ping Producer: 20050621 In: The Journal of biological chemistry vol. 280 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3959.	Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. [electronic resource] by Fairclough, Rebecca J Lonie, Lorne Van Baelen, Kurt Haftek, Marek Munro, Colin S Burge, Susan M Hovnanian, Alain Producer: 20040726 In: The Journal of investigative dermatology vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3960.	Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene. [electronic resource] by Al-Sheikh, Maha Moradkhani, Kamran Lopez, Marc Wajcman, Henri Préhu, Claude Producer: 20080506 In: Blood cells, molecules & diseases vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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