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	4301.	A candidate-gene approach to clone the sorghum Brown midrib gene encoding caffeic acid O-methyltransferase. [electronic resource] by Bout, S Vermerris, W Producer: 20030722 In: Molecular genetics and genomics : MGG vol. 269 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4302.	Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. [electronic resource] by Ohkubo, Shinji Takeda, Hisashi Higashide, Tomomi Ito, Mari Sakurai, Mayumi Shirao, Yutaka Yanagida, Takashi Oda, Yoshio Sado, Yoshikazu Producer: 20030619 In: Archives of ophthalmology (Chicago, Ill. : 1960) vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4303.	Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. [electronic resource] by Pulkkinen, L Rouan, F Bruckner-Tuderman, L Wallerstein, R Garzon, M Brown, T Smith, L Carter, W Uitto, J Producer: 19981223 In: American journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4304.	Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. [electronic resource] by Kato, Tomomi Kato, Zenichiro Kuratsubo, Izumi Tanaka, Noboru Ishigami, Tabito Kajihara, Jun-Ichi Sukegawa-Hayasaka, Kazuko Orii, Koji Isogai, Koji Fukao, Toshiyuki Shimozawa, Nobuyuki Orii, Tadao Kondo, Naomi Suzuki, Yasuyuki Producer: 20051103 In: Journal of human genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4305.	CBP80 promotes interaction of Upf1 with Upf2 during nonsense-mediated mRNA decay in mammalian cells. [electronic resource] by Hosoda, Nao Kim, Yoon Ki Lejeune, Fabrice Maquat, Lynne E Producer: 20051202 In: Nature structural & molecular biology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4306.	Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function. [electronic resource] by Ivaskevicius, Vytautas Biswas, Arijit Bevans, Carville Schroeder, Verena Kohler, Hans Peter Rott, Hannelore Halimeh, Susan Petrides, Petro E Lenk, Harald Krause, Manuele Miterski, Bruno Harbrecht, Ursula Oldenburg, Johannes Producer: 20110808 In: Haematologica vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4307.	Mutations in the calcium-related gene IL1RAPL1 are associated with autism. [electronic resource] by Piton, Amélie Michaud, Jacques L Peng, Huashan Aradhya, Swaroop Gauthier, Julie Mottron, Laurent Champagne, Nathalie Lafrenière, Ronald G Hamdan, Fadi F Joober, Ridha Fombonne, Eric Marineau, Claude Cossette, Patrick Dubé, Marie-Pierre Haghighi, Pejmun Drapeau, Pierre Barker, Philip A Carbonetto, Salvatore Rouleau, Guy A Producer: 20090716 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4308.	OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. [electronic resource] by Shrimpton, Antony E Hoopes, Richard R Knohl, Stephen J Hueber, Paul Reed, Anita A C Christie, Paul T Igarashi, Takashi Lee, Philip Lehman, Anna White, Colin Milford, David V Sanchez, Manuel Rivero Unwin, Robert Wrong, Oliver M Thakker, Rajesh V Scheinman, Steven J Producer: 20090723 In: Nephron. Physiology vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4309.	Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. [electronic resource] by Ruemmele, Frank M Müller, Thomas Schiefermeier, Natalia Ebner, Hannes L Lechner, Silvia Pfaller, Kristian Thöni, Cornelia E Goulet, Olivier Lacaille, Florence Schmitz, Jacques Colomb, Virginie Sauvat, Frédérique Revillon, Yann Canioni, Danielle Brousse, Nicole de Saint-Basile, Genevieve Lefebvre, Juliette Heinz-Erian, Peter Enninger, Axel Utermann, Gerd Hess, Michael W Janecke, Andreas R Huber, Lukas A Producer: 20100730 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4310.	Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome. [electronic resource] by Toromanovic, Alma Tahirovic, Husref Milenkovic, Tatjana Koehler, Katrin Kind, Barbara Zdravkovic, Dragan Hasanhodzic, Mensuda Huebner, Angela Producer: 20090527 In: European journal of pediatrics vol. 168 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4311.	Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. [electronic resource] by Shahin, Hashem Rahil, Michael Abu Rayan, Amal Avraham, Karen B King, Mary-Claire Kanaan, Moien Walsh, Tom Producer: 20101215 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4312.	A novel mutation in the biliverdin reductase-A gene combined with liver cirrhosis results in hyperbiliverdinaemia (green jaundice). [electronic resource] by Gåfvels, Mats Holmström, Petra Somell, Anna Sjövall, Fredrik Svensson, Jan-Olof Ståhle, Lars Broomé, Ulrika Stål, Per Producer: 20090910 In: Liver international : official journal of the International Association for the Study of the Liver vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4313.	Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. [electronic resource] by Suganthalakshmi, Balasubbu Shukla, Dhananjay Rajendran, Anand Kim, Ramasamy Nallathambi, Jeyabalan Sundaresan, Periasamy Producer: 20070629 In: Molecular vision vol. 13 Availability: No items available. Save to lists Add to cart (remove)
	4314.	A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation. [electronic resource] by Goldmann, Tobias Overlack, Nora Möller, Fabian Belakhov, Valery van Wyk, Michiel Baasov, Timor Wolfrum, Uwe Nagel-Wolfrum, Kerstin Producer: 20130603 In: EMBO molecular medicine vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4315.	Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo. [electronic resource] by Colvin, Stephanie C Malik, Raleigh E Showalter, Aaron D Sloop, Kyle W Rhodes, Simon J Producer: 20110210 In: Proceedings of the National Academy of Sciences of the United States of America vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4316.	Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye. [electronic resource] by Lee, Chanjae Wallingford, John B Gross, Jeffrey M Producer: 20140926 In: Investigative ophthalmology & visual science vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4317.	Generation of Esr1-knockout rats using zinc finger nuclease-mediated genome editing. [electronic resource] by Rumi, M A Karim Dhakal, Pramod Kubota, Kaiyu Chakraborty, Damayanti Lei, Tianhua Larson, Melissa A Wolfe, Michael W Roby, Katherine F Vivian, Jay L Soares, Michael J Producer: 20140616 In: Endocrinology vol. 155 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4318.	[Current therapeutic strategies in lysosomal disorders]. [electronic resource] by Kaminsky, Pierre Lidove, Olivier Producer: 20150130 In: Presse medicale (Paris, France : 1983) vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4319.	Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. [electronic resource] by Alby, Caroline Piquand, Kevin Huber, Céline Megarbané, André Ichkou, Amale Legendre, Marine Pelluard, Fanny Encha-Ravazi, Ferechté Abi-Tayeh, Georges Bessières, Bettina El Chehadeh-Djebbar, Salima Laurent, Nicole Faivre, Laurence Sztriha, László Zombor, Melinda Szabó, Hajnalka Failler, Marion Garfa-Traore, Meriem Bole, Christine Nitschké, Patrick Nizon, Mathilde Elkhartoufi, Nadia Clerget-Darpoux, Françoise Munnich, Arnold Lyonnet, Stanislas Vekemans, Michel Saunier, Sophie Cormier-Daire, Valérie Attié-Bitach, Tania Thomas, Sophie Producer: 20151029 In: American journal of human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4320.	Genetic variations in the active efflux pump genes acrA/B and tolC in different drug-induced strains of Escherichia coli CVCC 1547. [electronic resource] by Liu, J H Pan, Y S Yuan, L Wu, H Hu, G Z Chen, Y X Producer: 20140408 In: Genetics and molecular research : GMR vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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