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	5181.	Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. [electronic resource] by Yamada, K Yamada, Y Nomura, N Miura, K Wakako, R Hayakawa, C Matsumoto, A Kumagai, T Yoshimura, I Miyazaki, S Kato, K Sonta, S Ono, H Yamanaka, T Nagaya, M Wakamatsu, N Producer: 20020110 In: American journal of human genetics vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5182.	Mouse model of X-linked Alport syndrome. [electronic resource] by Rheault, Michelle N Kren, Stefan M Thielen, Beth K Mesa, Hector A Crosson, John T Thomas, William Sado, Yoshikazu Kashtan, Clifford E Segal, Yoav Producer: 20041006 In: Journal of the American Society of Nephrology : JASN vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5183.	Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. [electronic resource] by Atchaneeyasakul, La-Ongsri Trinavarat, Adisak Dulayajinda, Dhaivadee Kumpornsin, Kornphet Thongnoppakhun, Wanna Yenchitsomanus, Pa-thai Limwongse, Chanin Producer: 20060504 In: Ophthalmic genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5184.	Identification of mutations in CUL7 in 3-M syndrome. [electronic resource] by Huber, Céline Dias-Santagata, Dora Glaser, Anna O'Sullivan, James Brauner, Raja Wu, Kenneth Xu, Xinsong Pearce, Kerra Wang, Rong Uzielli, Maria Luisa Giovannucci Dagoneau, Nathalie Chemaitilly, Wassim Superti-Furga, Andrea Dos Santos, Heloisa Mégarbané, André Morin, Gilles Gillessen-Kaesbach, Gabriele Hennekam, Raoul Van der Burgt, Ineke Black, Graeme C M Clayton, Peter E Read, Andrew Le Merrer, Martine Scambler, Peter J Munnich, Arnold Pan, Zhen-Qiang Winter, Robin Cormier-Daire, Valérie Producer: 20051220 In: Nature genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5185.	Genotype-proteotype linkage in the Wiskott-Aldrich syndrome. [electronic resource] by Lutskiy, Maxim I Rosen, Fred S Remold-O'Donnell, Eileen Producer: 20050927 In: Journal of immunology (Baltimore, Md. : 1950) vol. 175 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5186.	A clinical and molecular genetic study of hypophosphatemic rickets in children. [electronic resource] by Cho, Hee Y Lee, Bum H Kang, Ju H Ha, Il S Cheong, Hae I Choi, Yong Producer: 20051110 In: Pediatric research vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5187.	Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in cases of pediatric acute myeloid leukemia. [electronic resource] by Simmons, Heidi M Ruis, Brian L Kapoor, Meenal Hudacek, Andrew W Conklin, Kathleen F Producer: 20050603 In: Gene vol. 347 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5188.	[Mutation detection of mismatch repair genes in hereditary nonpolyposis colorectal cancer by denaturing high-performance liquid chromatography]. [electronic resource] by Huang, Yan-qin Yuan, Ying Wang, Ya-ping Zhu, Ming Zhang, Su-zhan Zheng, Shu Producer: 20061114 In: Zhonghua wai ke za zhi [Chinese journal of surgery] vol. 43 Availability: No items available. Save to lists Add to cart (remove)
	5189.	Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). [electronic resource] by Michaelides, Michel Li, Zheng Rana, Naheed A Richardson, Emma C Hykin, Phil G Moore, Anthony T Holder, Graham E Webster, Andrew R Producer: 20100218 In: Ophthalmology vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5190.	Expression levels of Protocadherin-alpha transcripts are decreased by nonsense-mediated mRNA decay with frameshift mutations and by high DNA methylation in their promoter regions. [electronic resource] by Kaneko, Ryosuke Kawaguchi, Masahumi Toyama, Tomoko Taguchi, Yusuke Yagi, Takeshi Producer: 20090220 In: Gene vol. 430 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5191.	Spastic paraplegia in Romania: high prevalence of SPG4 mutations. [electronic resource] by Orlacchio, A Patrono, C Borreca, A Babalini, C Bernardi, G Kawarai, T Producer: 20080429 In: Journal of neurology, neurosurgery, and psychiatry vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5192.	A homozygous CARD9 mutation in a family with susceptibility to fungal infections. [electronic resource] by Glocker, Erik-Oliver Hennigs, Andre Nabavi, Mohammad Schäffer, Alejandro A Woellner, Cristina Salzer, Ulrich Pfeifer, Dietmar Veelken, Hendrik Warnatz, Klaus Tahami, Fariba Jamal, Sarah Manguiat, Annabelle Rezaei, Nima Amirzargar, Ali Akbar Plebani, Alessandro Hannesschläger, Nicole Gross, Olaf Ruland, Jürgen Grimbacher, Bodo Producer: 20091104 In: The New England journal of medicine vol. 361 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5193.	Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. [electronic resource] by Hoefs, Saskia J G Skjeldal, Ola H Rodenburg, Richard J Nedregaard, Bård van Kaauwen, Edwin P M Spiekerkötter, Ute von Kleist-Retzow, Jürgen-Christoph Smeitink, Jan A M Nijtmans, Leo G van den Heuvel, Lambert P Producer: 20100907 In: Molecular genetics and metabolism vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5194.	Surface gene mutations of hepatitis B virus among high-risk patients with occult hepatitis B virus infection. [electronic resource] by Hamkar, Rasool Aghakhani, Arezoo Soufian, Safyeh Banifazl, Mohammad Ghavami, Nastaran Nadri, Mahsa Sofian, Masoomeh Ahmadi, Farrokhlagha Razeghi, Effat Eslamifar, Ali Ramezani, Amitis Producer: 20100512 In: Diagnostic microbiology and infectious disease vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5195.	Herpes simplex virus type 1 strain KOS carries a defective US9 and a mutated US8A gene. [electronic resource] by Negatsch, Alexandra Mettenleiter, Thomas C Fuchs, Walter Producer: 20110118 In: The Journal of general virology vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5196.	Increased variance in germline allele-specific expression of APC associates with colorectal cancer. [electronic resource] by Curia, Maria Cristina De Iure, Sabrina De Lellis, Laura Veschi, Serena Mammarella, Sandra White, Marquitta J Bartlett, Jacquelaine Di Iorio, Angelo Amatetti, Cristina Lombardo, Marco Di Gregorio, Patrizia Battista, Pasquale Mariani-Costantini, Renato Williams, Scott M Cama, Alessandro Producer: 20120214 In: Gastroenterology vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5197.	Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. [electronic resource] by Tüysüz, B Bursalı, A Alp, Z Suyugül, N Laine, C M Mäkitie, O Producer: 20120821 In: Hormone research in paediatrics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5198.	Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. [electronic resource] by Losonczy, Gergely Fazakas, Ferenc Pfliegler, György Komáromi, István Balázs, Erzsébet Pénzes, Krisztina Berta, András Producer: 20130311 In: BMC medical genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5199.	Development of generic immunoassay for the detection of a series of aminoglycosides with 6'-OH group for the treatment of genetic diseases in biological samples. [electronic resource] by Shalev, Moran Kandasamy, Jeyakumar Skalka, Nir Belakhov, Valery Rosin-Arbesfeld, Rina Baasov, Timor Producer: 20130703 In: Journal of pharmaceutical and biomedical analysis vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5200.	Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. [electronic resource] by Ogi, Tomoo Walker, Sarah Stiff, Tom Hobson, Emma Limsirichaikul, Siripan Carpenter, Gillian Prescott, Katrina Suri, Mohnish Byrd, Philip J Matsuse, Michiko Mitsutake, Norisato Nakazawa, Yuka Vasudevan, Pradeep Barrow, Margaret Stewart, Grant S Taylor, A Malcolm R O'Driscoll, Mark Jeggo, Penny A Producer: 20130513 In: PLoS genetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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