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	4541.	Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation. [electronic resource] by Liberalesso, Paulo Breno Noronha Cordeiro, Mara L Karuta, Simone Carreiro Vieira Koladicz, Karyn Regina Jordão Nitsche, Anderson Zeigelboim, Bianca Simone Raskin, Salmo Rauchman, Michael Producer: 20171127 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4542.	Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model. [electronic resource] by Saito, Akiko Ooki, Akio Nakamura, Takashi Onodera, Shoko Hayashi, Kamichika Hasegawa, Daigo Okudaira, Takahito Watanabe, Katsuhito Kato, Hiroshi Onda, Takeshi Watanabe, Akira Kosaki, Kenjiro Nishimura, Ken Ohtaka, Manami Nakanishi, Mahito Sakamoto, Teruo Yamaguchi, Akira Sueishi, Kenji Azuma, Toshifumi Producer: 20190111 In: Stem cell research & therapy vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4543.	Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. [electronic resource] by Luco, Stephanie M Pohl, Daniela Sell, Erick Wagner, Justin D Dyment, David A Daoud, Hussein Producer: 20160511 In: BMC medical genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4544.	Identification of antiviral roles for the exon-junction complex and nonsense-mediated decay in flaviviral infection. [electronic resource] by Li, Minghua Johnson, Jeffrey R Truong, Billy Kim, Grace Weinbren, Nathan Dittmar, Mark Shah, Priya S Von Dollen, John Newton, Billy W Jang, Gwendolyn M Krogan, Nevan J Cherry, Sara Ramage, Holly Producer: 20190725 In: Nature microbiology vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4545.	Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids. [electronic resource] by Tang, Pei-Ciao Alex, Alpha L Nie, Jing Lee, Jiyoon Roth, Adam A Booth, Kevin T Koehler, Karl R Hashino, Eri Nelson, Rick F Producer: 20200506 In: Stem cell reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4546.	A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa. [electronic resource] by Nishiguchi, Koji Miura Fujita, Kosuke Ikeda, Yasuhiro Kunikata, Hiroshi Koyanagi, Yoshito Akiyama, Masato Abe, Toshiaki Wada, Yuko Sonoda, Koh-Hei Nakazawa, Toru Producer: 20210521 In: Japanese journal of ophthalmology vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4547.	A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. [electronic resource] by Guilbot, A Williams, A Ravisé, N Verny, C Brice, A Sherman, D L Brophy, P J LeGuern, E Delague, V Bareil, C Mégarbané, A Claustres, M Producer: 20010607 In: Human molecular genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4548.	Molecular basis of hereditary C1q deficiency. [electronic resource] by Petry, F Producer: 19990107 In: Immunobiology vol. 199 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4549.	Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene. [electronic resource] by Bruno, Claudio Santorelli, Filippo M Assereto, Stefania Tonoli, Emmanuel Tessa, Alessandra Traverso, Monica Scapolan, Sara Bado, Massimo Tedeschi, Silvana Minetti, Carlo Producer: 20031029 In: Muscle & nerve vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4550.	Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. [electronic resource] by Kondo, H Hayashi, H Oshima, K Tahira, T Hayashi, K Producer: 20031124 In: The British journal of ophthalmology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4551.	RNA chaperone StpA loosens interactions of the tertiary structure in the td group I intron in vivo. [electronic resource] by Waldsich, Christina Grossberger, Rupert Schroeder, Renée Producer: 20021010 In: Genes & development vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4552.	Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations. [electronic resource] by Hart, P S Aldred, M J Crawford, P J M Wright, N J Hart, T C Wright, J T Producer: 20021029 In: Archives of oral biology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4553.	Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. [electronic resource] by Ceulemans, Berten P G M Claes, Lieve R F Lagae, Lieven G Producer: 20040802 In: Pediatric neurology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4554.	Characterization of a new type HPV16 E7 variant isolated from cervical cancer highest incidence area in Hubei Province of China. [electronic resource] by Li, Hui Zhao, Min Qiu, Xiaoping Ding, Xiaohua Tan, Yun Wu, Xinxing Producer: 20050204 In: Eksperimental'naia onkologiia vol. 26 Availability: No items available. Save to lists Add to cart (remove)
	4555.	Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients. [electronic resource] by Spaepen, M Vankeirsbilck, B Van Opstal, S Tejpar, S Van Cutsem, E Geboes, K Legius, E Matthijs, G Producer: 20060816 In: Familial cancer vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4556.	A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. [electronic resource] by Müller, Felix B Huber, Marcel Kinaciyan, Tamar Hausser, Ingrid Schaffrath, Christina Krieg, Thomas Hohl, Daniel Korge, Bernhard P Arin, Meral J Producer: 20060919 In: Human molecular genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4557.	A null mutation in VAMP1/synaptobrevin is associated with neurological defects and prewean mortality in the lethal-wasting mouse mutant. [electronic resource] by Nystuen, Arne M Schwendinger, Jamie K Sachs, Andrew J Yang, Andy W Haider, Neena B Producer: 20080109 In: Neurogenetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4558.	Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. [electronic resource] by Van Hougenhouck-Tulleken, W Chan, I Hamada, T Thornton, H Jenkins, T McLean, W H I McGrath, J A Ramsay, M Producer: 20041216 In: The British journal of dermatology vol. 151 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4559.	Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. [electronic resource] by Pourreyron, Celine Cox, Georgie Mao, Xin Volz, Andreas Baksh, Nuzhat Wong, Tracy Fassihi, Hiva Arita, Ken O'Toole, Edel A Ocampo-Candiani, Jorge Chen, Mei Hart, Ian R Bruckner-Tuderman, Leena Salas-Alanis, Julio C McGrath, John A Leigh, Irene M South, Andrew P Producer: 20071002 In: The Journal of investigative dermatology vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4560.	Late-onset frontotemporal dementia associated with a novel PGRN mutation. [electronic resource] by Lladó, A Sánchez-Valle, R Reñé, R Ezquerra, M Rey, M J Tolosa, E Ferrer, I Molinuevo, J L Producer: 20080219 In: Journal of neural transmission (Vienna, Austria : 1996) vol. 114 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.