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	3541.	Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia. [electronic resource] by Aswathy, Peethambaran Mallika Jairani, Pushparajan Sulajamani Raghavan, Sheela Kumari Verghese, Joe Gopala, Srinivas Srinivas, Priya Mathuranath, Pavagada Sivasankara Producer: 20161213 In: Neurobiology of aging vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3542.	A plasma cell differentiation quality control ablates B cell clones with biallelic Ig rearrangements and truncated Ig production. [electronic resource] by Srour, Nivine Chemin, Guillaume Tinguely, Aurélien Ashi, Mohamad Omar Oruc, Zéliha Péron, Sophie Sirac, Christophe Cogné, Michel Delpy, Laurent Producer: 20160513 In: The Journal of experimental medicine vol. 213 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3543.	Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate. [electronic resource] by Eshete, M A Liu, H Li, M Adeyemo, W L Gowans, L J J Mossey, P A Busch, T Deressa, W Donkor, P Olaitan, P B Aregbesola, B S Braimah, R O Oseni, G O Oginni, F Audu, R Onwuamah, C James, O Augustine-Akpan, E Rahman, L A Ogunlewe, M O Arthur, F K N Bello, S A Agbenorku, P Twumasi, P Abate, F Hailu, T Demissie, Y Hailu, A Plange-Rhule, G Obiri-Yeboah, S Dunnwald, M M Gravem, P E Marazita, M L Adeyemo, A A Murray, J C Cornell, R A Butali, A Producer: 20180112 In: Journal of dental research vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3544.	Genomic semi-automated cycle sequencing as a sensitive screening technique for p53 mutations in frozen tumor samples. [electronic resource] by Wang-Gohrke, S Hees, S Pochon, A Wen, W H Reles, A Press, M F Kreienberg, R Runnebaum, I B Producer: 19980402 In: Oncology reports vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3545.	A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children. [electronic resource] by Tessa, A Simonati, A Tavoni, A Bertini, E Santorelli, F M Producer: 20000825 In: Human mutation vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3546.	Baby, don't stop! [electronic resource] by Mankin, A S Liebman, S W Producer: 19990923 In: Nature genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3547.	RNA events. No end to nonsense. [electronic resource] by Moore, Melissa J Producer: 20021127 In: Science (New York, N.Y.) vol. 298 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3548.	Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. [electronic resource] by Zhang, Y H Huang, B L Anyane-Yeboa, K Carvalho, J A Clemons, R D Cole, T De Figueiredo, B C Lubinsky, M Metzger, D L Quadrelli, R Repaske, D R Reyno, S Seaver, L H Vaglio, A Van Vliet, G McCabe, L L McCabe, E R Phelan, J K Producer: 20020307 In: Human mutation vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3549.	Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro. [electronic resource] by Helip-Wooley, A Park, M A Lemons, R M Thoene, J G Producer: 20020521 In: Molecular genetics and metabolism vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3550.	Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin. [electronic resource] by Soley, Gabriela Chavarria Bosse, Kristin A Flikier, David Flikier, Paul Azofeifa, Jorge Mardin, Christian Y Reis, Andre Michels-Rautenstrauss, Karin G Rautenstrauss, Bernd W Producer: 20030403 In: Journal of glaucoma vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3551.	Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome. [electronic resource] by Chan, Koon-Wing Lee, Tsz-Leung Chung, Brian Hon-Yin Yang, Xiqiang Lau, Yu-Lung Producer: 20020816 In: Human mutation vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3552.	Myophosphorylase deficiency (glycogenosis type V; McArdle disease). [electronic resource] by Dimaur, S Andreu, A L Bruno, C Hadjigeorgiou, G M Producer: 20021021 In: Current molecular medicine vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3553.	Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. [electronic resource] by Itabashi, Toshitaka Wada, Yuko Sato, Hajime Kawamura, Miyuki Shiono, Takashi Tamai, Makoto Producer: 20041209 In: American journal of ophthalmology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3554.	EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. [electronic resource] by Uno, Taku Sawada, Masako Kurotaki, Toshiaki Shinomiya, Noriaki Producer: 20041202 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3555.	Molecular cloning and sequence analyses of preprotemporin mRNAs containing premature stop codons from extradermal tissues of Rana tagoi. [electronic resource] by Iwamuro, Shawichi Nakamura, Marico Ohnuma, Aya Conlon, J Michael Producer: 20061107 In: Peptides vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3556.	Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation. [electronic resource] by Castaman, G Bertoncello, K Bernardi, M Eikenboom, J C J Budde, U Rodeghiero, F Producer: 20070531 In: American journal of hematology vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3557.	A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia. [electronic resource] by Lo Muzio, Lorenzo Tetè, Stefano Mastrangelo, Filiberto Cazzolla, Angela Pia Lacaita, Maria Grazia Margaglione, Maurizio Campisi, Giuseppina Producer: 20070614 In: Annals of clinical and laboratory science vol. 37 Availability: No items available. Save to lists Add to cart (remove)
	3558.	A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. [electronic resource] by Psoni, Stavroula Willems, Patrick J Kanavakis, Emmanuel Mavrou, Ariadne Frissyra, Helen Traeger-Synodinos, Joanne Sofokleous, Christalena Makrythanassis, Periklis Kitsiou-Tzeli, Sophia Producer: 20100520 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3559.	[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease]. [electronic resource] by Li, Xiao-li Peng, Zhen-hui Xiao, Sheng-xiang Liu, Yan Pan, Min Zhou, Shao-na Producer: 20090313 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 25 Availability: No items available. Save to lists Add to cart (remove)
	3560.	Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing. [electronic resource] by Wang, S-K Hu, Y Simmer, J P Seymen, F Estrella, N M R P Pal, S Reid, B M Yildirim, M Bayram, M Bartlett, J D Hu, J C-C Producer: 20130408 In: Journal of dental research vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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