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	3621.	Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. [electronic resource] by Lykavieris, Panayotis van Mil, Saskia Cresteil, Danièle Fabre, Monique Hadchouel, Michelle Klomp, Leo Bernard, Olivier Jacquemin, Emmanuel Producer: 20040430 In: Journal of hepatology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3622.	The case for the involvement of the Upf3p in programmed -1 ribosomal frameshifting. [electronic resource] by Dinman, J Ruiz-Echevarria, M Wang, W Peltz, S Producer: 20010125 In: RNA (New York, N.Y.) vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3623.	Hypofibrinogenaemia with compound heterozygosity for two gamma chain mutations - gamma 82 Ala-->Gly and an intron two GT-->AT splice site mutation. [electronic resource] by Wyatt, J Brennan, S O May, S George, P M Producer: 20010329 In: Thrombosis and haemostasis vol. 84 Availability: No items available. Save to lists Add to cart (remove)
	3624.	Grebe dysplasia and the spectrum of CDMP1 mutations. [electronic resource] by Stelzer, Christiane Winterpacht, Andreas Spranger, Jürgen Zabel, Bernhard Producer: 20030617 In: Pediatric pathology & molecular medicine vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3625.	Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations. [electronic resource] by Yoshida, Taketoshi Kanegane, Hirokazu Osato, Motomi Yanagida, Masatoshi Miyawaki, Toshio Ito, Yoshiaki Shigesada, Katsuya Producer: 20040819 In: Blood cells, molecules & diseases vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3626.	A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases. [electronic resource] by Hewitt, Alex W Bennett, Sonya L Dimasi, David P Craig, Jamie E Mackey, David A Producer: 20060228 In: American journal of ophthalmology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3627.	Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. [electronic resource] by Khan, Sikandar G Oh, Kyu-Seon Shahlavi, Tala Ueda, Takahiro Busch, David B Inui, Hiroki Emmert, Steffen Imoto, Kyoko Muniz-Medina, Vanessa Baker, Carl C DiGiovanna, John J Schmidt, Deborah Khadavi, Arash Metin, Ahmet Gozukara, Engin Slor, Hanoch Sarasin, Alain Kraemer, Kenneth H Producer: 20070312 In: Carcinogenesis vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3628.	Role for Upf2p phosphorylation in Saccharomyces cerevisiae nonsense-mediated mRNA decay. [electronic resource] by Wang, Weirong Cajigas, Iván J Peltz, Stuart W Wilkinson, Miles F González, Carlos I Producer: 20060523 In: Molecular and cellular biology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3629.	CXorf6 is a causative gene for hypospadias. [electronic resource] by Fukami, Maki Wada, Yuka Miyabayashi, Kanako Nishino, Ichizo Hasegawa, Tomonobu Nordenskjöld, Agneta Camerino, Giovanna Kretz, Christine Buj-Bello, Anna Laporte, Jocelyn Yamada, Gen Morohashi, Ken-Ichirou Ogata, Tsutomu Producer: 20070216 In: Nature genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3630.	Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency. [electronic resource] by Baldinotti, F Majore, S Fogli, A Marrocco, G Ghirri, P Vuerich, M Tumini, S Boscherini, B Vetri, M Scommegna, S Rinaldi, R Simi, P Grammatico, P Producer: 20080310 In: Journal of andrology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3631.	Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. [electronic resource] by Zakharova, Faina M Damgaard, Dorte Mandelshtam, Michail Y Golubkov, Valery I Nissen, Peter H Nilsen, Gitte G Stenderup, Anette Lipovetsky, Boris M Konstantinov, Vladimir O Denisenko, Alexander D Vasilyev, Vadim B Faergeman, Ole Producer: 20050429 In: BMC medical genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3632.	The eln3 gene involved in fruiting body morphogenesis of Coprinus cinereus encodes a putative membrane protein with a general glycosyltransferase domain. [electronic resource] by Arima, Toshihide Yamamoto, Maki Hirata, Aiko Kawano, Shigeyuki Kamada, Takashi Producer: 20040820 In: Fungal genetics and biology : FG & B vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3633.	An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II. [electronic resource] by Tappino, B Regis, S Corsolini, F Filocamo, M Producer: 20080403 In: Molecular genetics and metabolism vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3634.	In vitro and pathological investigations of MODY5 with the R276X-HNF1beta (TCF2) mutation. [electronic resource] by Fujimoto, Kei Sasaki, Takashi Hiki, Yoshito Nemoto, Masami Utsunomiya, Yasunori Yokoo, Takashi Nakai, Nozomu Ohashi, Toya Hosoya, Tatsuo Eto, Yoshikatsu Tajima, Naoko Producer: 20080313 In: Endocrine journal vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3635.	Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. [electronic resource] by Abdelghaffar, Tawhida Y Elsayed, Solaf M Elsobky, Ezzat Bochow, Bettina Büttner, Janine Schmidt, Hartmut Producer: 20081014 In: Journal of human genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3636.	Nonsense-mediated mRNA decay mutes the splicing defects of spliceosome component mutations. [electronic resource] by Kawashima, Tadashi Pellegrini, Matteo Chanfreau, Guillaume F Producer: 20091221 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)
	3637.	Coordinated regulation of anthocyanin biosynthesis in Chinese bayberry (Myrica rubra) fruit by a R2R3 MYB transcription factor. [electronic resource] by Niu, Shan-Shan Xu, Chang-Jie Zhang, Wang-Shu Zhang, Bo Li, Xian Lin-Wang, Kui Ferguson, Ian B Allan, Andrew C Chen, Kun-Song Producer: 20100504 In: Planta vol. 231 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3638.	Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. [electronic resource] by Kondo, Hiroyuki Kusaka, Shunji Yoshinaga, Aki Uchio, Eiichi Tawara, Akihiko Hayashi, Kenshi Tahira, Tomoko Producer: 20110727 In: American journal of ophthalmology vol. 151 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3639.	Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. [electronic resource] by Kousar, Rizwana Hassan, Muhammad Jawad Khan, Bushra Basit, Sulman Mahmood, Saqib Mir, Asif Ahmad, Wasim Ansar, Muhammad Producer: 20120123 In: BMC neurology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3640.	The N-terminally truncated p53 isoform Δ40p53 influences prognosis in mucinous ovarian cancer. [electronic resource] by Hofstetter, Gerda Berger, Astrid Berger, Regina Zorić, Arijana Braicu, Elena I Reimer, Daniel Fiegl, Heidi Marth, Christian Zeimet, Alain G Ulmer, Hanno Moll, Ute Zeillinger, Robert Concin, Nicole Producer: 20120709 In: International journal of gynecological cancer : official journal of the International Gynecological Cancer Society vol. 22 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.