Your search returned 5852 results.

Results
	5081.	Simultaneous adult polycystic kidney disease and Alport syndrome. [electronic resource] by Phelan, Paul J Fletcher, Elaine Carroll, Nicola Metcalfe, Wendy Turner, A Neil Producer: 20170227 In: Nephrology (Carlton, Vic.) vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5082.	Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. [electronic resource] by Carrozzo, Rosalba Verrigni, Daniela Rasmussen, Magnhild de Coo, Rene Amartino, Hernan Bianchi, Marzia Buhas, Daniela Mesli, Samir Naess, Karin Born, Alfred Peter Woldseth, Berit Prontera, Paolo Batbayli, Mustafa Ravn, Kirstine Joensen, Fróði Cordelli, Duccio M Santorelli, Filippo Maria Tulinius, Mar Darin, Niklas Duno, Morten Jouvencel, Philippe Burlina, Alberto Stangoni, Gabriela Bertini, Enrico Redonnet-Vernhet, Isabelle Wibrand, Flemming Dionisi-Vici, Carlo Uusimaa, Johanna Vieira, Paivi Osorio, Andrés Nascimento McFarland, Robert Taylor, Robert W Holme, Elisabeth Ostergaard, Elsebet Producer: 20161213 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5083.	Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome. [electronic resource] by Minucci, Angelo Ruggiero, Antonio Canu, Giulia Maurizi, Palma De Bonis, Maria Concolino, Paola De Luca, Daniele Capoluongo, Ettore Producer: 20151013 In: Pediatric blood & cancer vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5084.	Association of Early-Onset Alzheimer Disease With Elevated Low-Density Lipoprotein Cholesterol Levels and Rare Genetic Coding Variants of APOB. [electronic resource] by Wingo, Thomas S Cutler, David J Wingo, Aliza P Le, Ngoc-Anh Rabinovici, Gil D Miller, Bruce L Lah, James J Levey, Allan I Producer: 20200618 In: JAMA neurology vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5085.	Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4. [electronic resource] by Hernandez-Gonzalez, Ignacio Tenorio, Jair Palomino-Doza, Julian Martinez Meñaca, Amaya Morales Ruiz, Rafael Lago-Docampo, Mauro Valverde Gomez, María Gomez Roman, Javier Enguita Valls, Ana Belén Perez-Olivares, Carmen Valverde, Diana Gil Carbonell, Joan Garrido-Lestache Rodríguez-Monte, Elvira Del Cerro, Maria Jesus Lapunzina, Pablo Escribano-Subias, Pilar Producer: 20200728 In: PloS one vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5086.	Mutation of a highly conserved base in the yeast mitochondrial 21S rRNA restricts ribosomal frameshifting. [electronic resource] by Weiss-Brummer, B Zollner, A Haid, A Thompson, S Producer: 19950922 In: Molecular & general genetics : MGG vol. 248 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5087.	Characterization of phi8, a bacteriophage containing three double-stranded RNA genomic segments and distantly related to Phi6. [electronic resource] by Hoogstraten, D Qiao, X Sun, Y Hu, A Onodera, S Mindich, L Producer: 20000719 In: Virology vol. 272 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5088.	A nonsense mutation in zebrafish gata1 causes the bloodless phenotype in vlad tepes. [electronic resource] by Lyons, Susan E Lawson, Nathan D Lei, Lin Bennett, Paul E Weinstein, Brant M Liu, P Paul Producer: 20020614 In: Proceedings of the National Academy of Sciences of the United States of America vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5089.	Activation-induced cytidine deaminase turns on somatic hypermutation in hybridomas. [electronic resource] by Martin, Alberto Bardwell, Philip D Woo, Caroline J Fan, Manxia Shulman, Marc J Scharff, Matthew D Producer: 20020315 In: Nature vol. 415 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5090.	DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia. [electronic resource] by Ding, Qi Bramble, Lori Yuzbasiyan-Gurkan, Vilma Bell, Thomas Meek, Katheryn Producer: 20020513 In: Gene vol. 283 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5091.	Characterization of human CYP2G genes: widespread loss-of-function mutations and genetic polymorphism. [electronic resource] by Sheng, J Guo, J Hua, Z Caggana, M Ding, X Producer: 20010426 In: Pharmacogenetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5092.	RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa. [electronic resource] by Baum, L Chan, W M Yeung, K Y Lam, D S Kwok, A K Pang, C P Producer: 20010830 In: Human mutation vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5093.	New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. [electronic resource] by Cox, T C Allen, L R Cox, L L Hopwood, B Goodwin, B Haan, E Suthers, G K Producer: 20001222 In: Human molecular genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5094.	Molecular genetics of C1 inhibitor. [electronic resource] by Tosi, M Producer: 19990107 In: Immunobiology vol. 199 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5095.	Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. [electronic resource] by Burwinkel, B Kreuder, J Schweitzer, S Vorgerd, M Gempel, K Gerbitz, K D Kilimann, M W Producer: 19990908 In: Biochemical and biophysical research communications vol. 261 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5096.	Autoimmunity as a result of escape from RNA surveillance. [electronic resource] by Bachmann, Michael P Bartsch, Holger Gross, Joanne K Maier, Shannon M Gross, Timothy F Workman, Jennifer L James, Judith A Farris, A Darise Jung, Bettina Franke, Claudia Conrad, Karsten Schmitz, Marc Büttner, Cordula Buyon, Jill P Semsei, Imre Harley, John B Rieber, E Peter Producer: 20060906 In: Journal of immunology (Baltimore, Md. : 1950) vol. 177 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5097.	A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. [electronic resource] by Niu, Dau-Ming Hwang, Betau Hwang, Han-Wei Wang, Nana H Wu, Jer-Yuarn Lee, Pi-Chang Chien, Jen-Chung Shieh, Ru-Chi Chen, Yuan-Tsong Producer: 20061204 In: Journal of medical genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5098.	Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. [electronic resource] by Lucchiari, S Pagliarani, S Salani, S Filocamo, M Di Rocco, M Melis, D Rodolico, C Musumeci, O Toscano, A Bresolin, N Comi, G P Producer: 20060626 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5099.	A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients. [electronic resource] by Thakur, Nikita Reddy, D Nageshwar Rao, G Venkat Mohankrishna, P Singh, Lalji Chandak, Giriraj R Producer: 20061024 In: BMC medical genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5100.	Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity. [electronic resource] by Nornes, Svanhild Newman, Morgan Verdile, Giuseppe Wells, Simon Stoick-Cooper, Cristi L Tucker, Ben Frederich-Sleptsova, Inna Martins, Ralph Lardelli, Michael Producer: 20080312 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.