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	2481.	Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata. [electronic resource] by Hellenbroich, Yorck Grzeschik, Karl-Heinz Krapp, Martin Jarutat, Tiantom Lehrmann-Petersen, Christa Buiting, Karin Gillessen-Kaesbach, Gabriele Producer: 20071121 In: European journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2482.	[Overexpression of gene PPZ1 in the yeast Saccharomyces cerevisiae affects the efficiency of nonsense suppression]. [electronic resource] by Ivanov, M S Aksenova, A Iu Burdaeva, Ia V Radchenko, E A Mironova, L N Producer: 20080805 In: Genetika vol. 44 Availability: No items available. Save to lists Add to cart (remove)
	2483.	Site-specific incorporation of chemical probes into proteins for NMR. [electronic resource] by Hassan, A Quamrul Producer: 20081010 In: ACS chemical biology vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2484.	A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding. [electronic resource] by Vettore, Silvia Scandellari, Raffaella Scapin, Margherita Lombardi, Anna Maria Duner, Elena Randi, Maria Luigia Fabris, Fabrizio Producer: 20081027 In: Platelets vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2485.	Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus. [electronic resource] by Belguith, Hanen Aifa-Hmani, Mounira Dhouib, Houria Said, Mariem Ben Mosrati, Mohamed Ali Lahmar, Imed Moalla, Jihen Charfeddine, Ilhem Driss, Nabil Arab, Saida Ben Ghorbel, Abdelmonem Ayadi, Hammadi Masmoudi, Saber Producer: 20090615 In: Genetic testing and molecular biomarkers vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2486.	Exon skipping-mediated dystrophin reading frame restoration for small mutations. [electronic resource] by Spitali, Pietro Rimessi, Paola Fabris, Marina Perrone, Daniela Falzarano, Sofia Bovolenta, Matteo Trabanelli, Cecilia Mari, Lara Bassi, Elena Tuffery, Sylvie Gualandi, Francesca Maraldi, Nadir M Sabatelli-Giraud, Patrizia Medici, Alessandro Merlini, Luciano Ferlini, Alessandra Producer: 20100225 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2487.	Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. [electronic resource] by Ghalamkarpour, Arash Debauche, Christian Haan, Eric Van Regemorter, Nicole Sznajer, Yves Thomas, Dominique Revencu, Nicole Gillerot, Yves Boon, Laurence M Vikkula, Miikka Producer: 20090722 In: The Journal of pediatrics vol. 155 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2488.	The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ. [electronic resource] by HadjKacem, Basma Elleuch, Henda Trigui, Ramzi Gargouri, Jalel Gargouri, Ali Faouzi Producer: 20121030 In: Annals of hematology vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2489.	Equal transcription rates of productively and nonproductively rearranged immunoglobulin mu heavy chain alleles in a pro-B cell line. [electronic resource] by Eberle, Andrea B Herrmann, Kai Jäck, Hans-Martin Mühlemann, Oliver Producer: 20090730 In: RNA (New York, N.Y.) vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2490.	A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. [electronic resource] by Yan, Naihong Liao, Xuan Cai, Su-ping Lan, Changjun Wang, Yun Zhou, Xiaomin Yin, Yan Yu, Wenhan Liu, Xuyang Producer: 20130116 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2491.	Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. [electronic resource] by Jansen, Casper Parchi, Piero Capellari, Sabina Vermeij, Ad J Corrado, Patrizia Baas, Frank Strammiello, Rosaria van Gool, Willem A van Swieten, John C Rozemuller, Annemieke J M Producer: 20100302 In: Acta neuropathologica vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2492.	MEF9, an E-subclass pentatricopeptide repeat protein, is required for an RNA editing event in the nad7 transcript in mitochondria of Arabidopsis. [electronic resource] by Takenaka, Mizuki Producer: 20100322 In: Plant physiology vol. 152 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2493.	Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. [electronic resource] by Ratbi, Ilham Elalaoui, Siham Chafai Moizard, Marie-Pierre Raynaud, Martine Sefiani, Abdelaziz Producer: 20110419 In: The Turkish journal of pediatrics vol. 52 Availability: No items available. Save to lists Add to cart (remove)
	2494.	Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. [electronic resource] by Rahman, Obaid Ur Khawar, Nadeem Khan, Muhammad Aman Ahmed, Jawad Khattak, Kamran Al-Aama, Jumana Yousuf Naeem, Muhammad Jelani, Musharraf Producer: 20131118 In: Diagnostic pathology vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2495.	Immunodeficiency associated with a nonsense mutation of IKBKB. [electronic resource] by Nielsen, Christian Jakobsen, Marianne A Larsen, Martin Jakob Müller, Amanda C Hansen, Soren Lillevang, Søren T Fisker, Niels Barington, Torben Producer: 20151230 In: Journal of clinical immunology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2496.	RDH5 retinopathy (fundus albipunctatus) with preserved rod function. [electronic resource] by Liu, Xiaowei Liu, Liang Li, Hui Xu, Fei Jiang, Ruxin Sui, Ruifang Producer: 20150826 In: Retina (Philadelphia, Pa.) vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2497.	A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy. [electronic resource] by Bee, Leonardo Nasca, Alessia Zanolini, Alice Cendron, Filippo d'Adamo, Pio Costa, Rodolfo Lamperti, Costanza Celotti, Lucia Ghezzi, Daniele Zeviani, Massimo Producer: 20160321 In: EMBO molecular medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2498.	Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti. [electronic resource] by Hull, Sarah Arno, Gavin Thomson, Penelope Mutch, Stacey Webster, Andrew R Rai, Harjeet Hill, Virginia Moore, Anthony T Producer: 20160317 In: American journal of medical genetics. Part A vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2499.	Two novel KEL alleles encoding K0 phenotypes in Brazilians. [electronic resource] by Arnoni, Carine Prisco Gazito, Diana Muniz, Janaína Guilhem Person, Rosangela de Medeiros Brandão, Frederico Marques, Maria Goretti de Araújo Barreto, José Augusto Castilho, Lilian Latini, Flavia Roche Moreira Producer: 20141014 In: Transfusion vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2500.	Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. [electronic resource] by Lee, Eunji Rahman, Obaid Ur Khan, Muhammad Tariq Masood Wadood, Abdul Naeem, Muhammad Kang, Changsoo Jelani, Musharraf Producer: 20161213 In: Journal of dermatological science vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.