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	2581.	Identification of somatic alterations in lipoma using whole exome sequencing. [electronic resource] by Kanojia, Deepika Dakle, Pushkar Mayakonda, Anand Parameswaran, Rajeev Puhaindran, Mark E Min, Victor Lee Kwan Madan, Vikas Koeffler, Phillip Producer: 20201029 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2582.	Implementation of high-resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation. [electronic resource] by Martínez-Saucedo, Mirna Ornelas-Fuentes, Carolina Dedden, Mark Sánchez-Urbina, Rocío Díaz-García, Héctor Aquino-Jarquin, Guillermo Moreno-Salgado, Rodrigo Granados-Riveron, Javier T Producer: 20210708 In: The journal of gene medicine vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2583.	A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome. [electronic resource] by Jansen, C Hendriks-Stegeman, B I Jansen, M Producer: 20001130 In: Hormone research vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2584.	Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. [electronic resource] by Akagi, M Inui, K Nakajima, S Shima, M Nishigaki, T Muramatsu, T Kokubu, C Tsukamoto, H Sakai, N Okada, S Producer: 20000418 In: Journal of human genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2585.	Incorporation of caged cysteine and caged tyrosine into a transmembrane segment of the nicotinic ACh receptor. [electronic resource] by Philipson, K D Gallivan, J P Brandt, G S Dougherty, D A Lester, H A Producer: 20010712 In: American journal of physiology. Cell physiology vol. 281 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2586.	Identification of two novel mutations in the human growth hormone receptor gene. [electronic resource] by Shevah, O Borrelli, P Rubinstein, M Laron, Z Producer: 20040608 In: Journal of endocrinological investigation vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2587.	Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). [electronic resource] by Wang, Jian Hegele, Robert A Producer: 20030516 In: Human genetics vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2588.	A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. [electronic resource] by Arcasoy, Murat O Karayal, Aysen F Segal, Harvey M Sinning, Joseph G Forget, Bernard G Producer: 20020617 In: Blood vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2589.	Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. [electronic resource] by Schrijver, Iris Liu, Wanguo Odom, Raanan Brenn, Thomas Oefner, Peter Furthmayr, Heinz Francke, Uta Producer: 20020820 In: American journal of human genetics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2590.	Efficient expression of the 15-kDa form of infectious pancreatic necrosis virus VP5 by suppression of a UGA codon. [electronic resource] by Song, Haichen Baxter-Roshek, Jennifer L Dinman, Jonathan D Vakharia, Vikram N Producer: 20070315 In: Virus research vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2591.	Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. [electronic resource] by Zhang, X Q Wu, H Z Li, B X Xu, Y S Wu, J B Lin, L L Yang, Y Li, Z M Lin, X H Zhang, Q Y Producer: 20070208 In: Clinical and experimental dermatology vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2592.	A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. [electronic resource] by Uematsu, Mitsugu Sakamoto, Osamu Nishio, Toshiyuki Ohura, Toshihiro Matsuda, Tadashi Inagaki, Tetsuji Abe, Takaaki Okamura, Kunihiro Kondo, Yoshiaki Tsuchiya, Shigeru Producer: 20070112 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2593.	Double-strand break repair machinery is sensitive to UV radiation. [electronic resource] by Ilnytskyy, Yaroslav Yao, Youli Kovalchuk, Igor Producer: 20050126 In: Journal of molecular biology vol. 345 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2594.	Cholesterol, racial variation and targeted medicines. [electronic resource] by Topol, Eric J Producer: 20050429 In: Nature medicine vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2595.	Molecular analysis of factor IX gene in an Iranian female with severe hemophilia B. [electronic resource] by Karimipoor, Morteza Kokabee, Leila Kamali, Esmat Karizi, Shohreh Zare Zeinali, Sirous Producer: 20080731 In: Acta haematologica vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2596.	[Nonsense-mediated mRNA decay (NMD)--on guard of mRNA quality]. [electronic resource] by Dzikiewicz, Agnieszka Szweykowska-Kulińska, Zofia Producer: 20070726 In: Postepy biochemii vol. 52 Availability: No items available. Save to lists Add to cart (remove)
	2597.	A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. [electronic resource] by Simşek, Enver Savaş-Erdeve, Senay Sakamoto, Osamu Doğanci, Tümay Dallar, Yildiz Producer: 20090625 In: The Turkish journal of pediatrics vol. 51 Availability: No items available. Save to lists Add to cart (remove)
	2598.	A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. [electronic resource] by Vuorela, Pia E Penttinen, Maila T Hietala, Marja H Laine, Jukka O Huoponen, Kirsi A Kääriäinen, Helena A Producer: 20090903 In: Clinical dysmorphology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2599.	A new ENU-induced mutant mouse with defective spermatogenesis caused by a nonsense mutation of the syntaxin 2/epimorphin (Stx2/Epim) gene. [electronic resource] by Akiyama, Kouyou Akimaru, Shiho Asano, Yuka Khalaj, Maryam Kiyosu, Chiyo Masoudi, Ali Akbar Takahashi, Sakino Katayama, Kentaro Tsuji, Takehito Noguchi, Junko Kunieda, Tetsuo Producer: 20080709 In: The Journal of reproduction and development vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2600.	Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. [electronic resource] by Moslemi, Ali-Reza Lindberg, Christopher Nilsson, Johanna Tajsharghi, Homa Andersson, Bert Oldfors, Anders Producer: 20100406 In: The New England journal of medicine vol. 362 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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