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	4281.	Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. [electronic resource] by Depienne, Christel Trouillard, Oriane Gourfinkel-An, Isabelle Saint-Martin, Cécile Bouteiller, Delphine Graber, Denis Barthez-Carpentier, Marie-Anne Gautier, Agnès Villeneuve, Nathalie Dravet, Charlotte Livet, Marie-Odile Rivier-Ringenbach, Clothilde Adam, Claude Dupont, Sophie Baulac, Stéphanie Héron, Delphine Nabbout, Rima Leguern, Eric Producer: 20100915 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)
	4282.	Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome. [electronic resource] by Suzuki, Maiko Hatsuse, Hiromi Nagao, Kazuaki Takayama, Yoshinaga Kameyama, Kohzoh Kabasawa, Yuji Omura, Ken Yoshida, Masayuki Fujii, Katsunori Miyashita, Toshiyuki Producer: 20121127 In: Journal of human genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4283.	[Rescue of nonsense mutated p53 by readthrough leads to apoptosis in cancers cells]. [electronic resource] by Floquet, Célia Rousset, Jean-Pierre Bidou, Laure Producer: 20110912 In: Medecine sciences : M/S vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4284.	A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. [electronic resource] by Garshasbi, Masoud Kahrizi, Kimia Hosseini, Masoumeh Nouri Vahid, Leila Falah, Masoumeh Hemmati, Sahel Hu, Hao Tzschach, Andreas Ropers, Hans Hilger Najmabadi, Hossein Kuss, Andreas Walter Producer: 20111123 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4285.	Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. [electronic resource] by van Huet, Ramon A C Siemiatkowska, Anna M Özgül, Riza K Yücel, Didem Hoyng, Carel B Banin, Eyal Blumenfeld, Anat Rotenstreich, Ygal Riemslag, Frans C C den Hollander, Anneke I Theelen, Thomas Collin, Rob W J van den Born, L Ingeborgh Klevering, B Jeroen Producer: 20150624 In: Acta ophthalmologica vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4286.	Heat shock activates splicing at latent alternative 5' splice sites in nematodes. [electronic resource] by Nevo, Yuval Sperling, Joseph Sperling, Ruth Producer: 20160429 In: Nucleus (Austin, Tex.) vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4287.	Sulfasalazine disposition in a subject with 376C>T (nonsense mutation) and 421C>A variants in the ABCG2 gene. [electronic resource] by Gotanda, Keisuke Tokumoto, Tomoko Hirota, Takeshi Fukae, Masato Ieiri, Ichiro Producer: 20160912 In: British journal of clinical pharmacology vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4288.	The SMG5-SMG7 heterodimer directly recruits the CCR4-NOT deadenylase complex to mRNAs containing nonsense codons via interaction with POP2. [electronic resource] by Loh, Belinda Jonas, Stefanie Izaurralde, Elisa Producer: 20131125 In: Genes & development vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4289.	SNPs of melanocortin 4 receptor (MC4R) associated with body weight in Beagle dogs. [electronic resource] by Zeng, Ruixia Zhang, Yibo Du, Peng Producer: 20140925 In: Experimental animals vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4290.	Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. [electronic resource] by Kuechler, Alma Zink, Alexander M Wieland, Thomas Lüdecke, Hermann-Josef Cremer, Kirsten Salviati, Leonardo Magini, Pamela Najafi, Kimia Zweier, Christiane Czeschik, Johanna Christina Aretz, Stefan Endele, Sabine Tamburrino, Federica Pinato, Claudia Clementi, Maurizio Gundlach, Jasmin Maylahn, Carina Mazzanti, Laura Wohlleber, Eva Schwarzmayr, Thomas Kariminejad, Roxana Schlessinger, Avner Wieczorek, Dagmar Strom, Tim M Novarino, Gaia Engels, Hartmut Producer: 20160203 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)
	4291.	A flow cytometry-based reporter assay identifies macrolide antibiotics as nonsense mutation read-through agents. [electronic resource] by Caspi, Michal Firsow, Anastasia Rajkumar, Raja Skalka, Nir Moshkovitz, Itay Munitz, Ariel Pasmanik-Chor, Metsada Greif, Hagar Megido, Dalia Kariv, Revital Rosenberg, Daniel W Rosin-Arbesfeld, Rina Producer: 20161226 In: Journal of molecular medicine (Berlin, Germany) vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4292.	De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia. [electronic resource] by Rawlins, Lettie E Stals, Karen L Eason, Julian D Turnpenny, Peter D Producer: 20180827 In: Clinical dysmorphology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4293.	Vitamin B12 deficiency in inflammatory bowel disease: a prospective observational pilot study. [electronic resource] by Battat, Robert Kopylov, Uri Byer, Joshua Sewitch, Maida J Rahme, Elham Nedjar, Hacene Zelikovic, Elana Dionne, Serge Bessissow, Talat Afif, Waqqas Waters, Paula J Seidman, Ernest Bitton, Alain Producer: 20180706 In: European journal of gastroenterology & hepatology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4294.	Expanding the Mutation Spectrum in [electronic resource] by Nassisi, Marco Mohand-Saïd, Saddek Dhaenens, Claire-Marie Boyard, Fiona Démontant, Vanessa Andrieu, Camille Antonio, Aline Condroyer, Christel Foussard, Marine Méjécase, Cécile Eandi, Chiara Maria Sahel, José-Alain Zeitz, Christina Audo, Isabelle Producer: 20181121 In: International journal of molecular sciences vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4295.	Flagellin-independent effects of a Toll-like receptor 5 polymorphism in the inflammatory response to Burkholderia pseudomallei. [electronic resource] by Dickey, Amy K Chantratita, Narisara Tandhavanant, Sarunporn Ducken, Deirdre Lovelace-Macon, Lara Seal, Sudeshna Robertson, Johanna Myers, Nicolle D Schwarz, Sandra Wurfel, Mark M Kosamo, Susanna West, T Eoin Producer: 20191028 In: PLoS neglected tropical diseases vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4296.	A Truncated Snail1 Transcription Factor Alters the Expression of Essential EMT Markers and Suppresses Tumor Cell Migration in a Human Lung Cancer Cell Line. [electronic resource] by Gholami, Mohammad Davoodzadeh Falak, Reza Heidari, Sahel Khoshmirsafa, Majid Kazemi, Mohammad H Zarnani, Amir-Hassan Safari, Elaheh Tajik, Nader Kardar, Gholam A Producer: 20200211 In: Recent patents on anti-cancer drug discovery vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4297.	Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1. [electronic resource] by Hozumi, Kaori Fukuoka, Hidenori Odake, Yukiko Takeuchi, Takehito Uehara, Tomoko Sato, Takeshi Inoshita, Naoko Yoshida, Kenichi Matsumoto, Ryusaku Bando, Hironori Hirota, Yushi Iguchi, Genzo Taniguchi, Masaaki Otsuki, Naoki Nishigori, Chikako Kosaki, Kenjiro Hasegawa, Tomonobu Ogawa, Wataru Takahashi, Yutaka Producer: 20200323 In: Endocrine journal vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4298.	Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A. [electronic resource] by Abd Elmaksoud, M S Gomaa, N S Azouz, H G On, C N V Ho, C T Omar, T E McGrath, J A Onoufriadis, A Producer: 20210504 In: Clinical and experimental dermatology vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4299.	Analysis of natural killer cells in TAP2-deficient patients: expression of functional triggering receptors and evidence for the existence of inhibitory receptor(s) that prevent lysis of normal autologous cells. [electronic resource] by Vitale, Massimo Zimmer, Jacques Castriconi, Roberta Hanau, Daniel Donato, Lionel Bottino, Cristina Moretta, Lorenzo de la Salle, Henri Moretta, Alessandro Producer: 20020516 In: Blood vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4300.	A new class of regulatory genes underlying the cause of pear-shaped tomato fruit. [electronic resource] by Liu, Jiping Van Eck, Joyce Cong, Bin Tanksley, Steven D Producer: 20021113 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)

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