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	5781.	Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome. [electronic resource] by Devotta, Arun Juraver-Geslin, Hugo Gonzalez, Jose Antonio Hong, Chang-Soo Saint-Jeannet, Jean-Pierre Producer: 20170626 In: Developmental biology vol. 415 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5782.	Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing. [electronic resource] by Patnaik, Mrinal M Lasho, Terra L Finke, Christy M Hanson, Curtis A King, Rebecca L Ketterling, Rhett P Gangat, Naseema Tefferi, Ayalew Producer: 20160906 In: American journal of hematology vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5783.	Positional cloning of the combined hyperlipidemia gene Hyplip1. [electronic resource] by Bodnar, Jackie S Chatterjee, Aurobindo Castellani, Lawrence W Ross, David A Ohmen, Jeffrey Cavalcoli, James Wu, Chenyan Dains, Katherine M Catanese, Joe Chu, Michael Sheth, Sonal S Charugundla, Kanti Demant, Peter West, David B de Jong, Pieter Lusis, Aldons J Producer: 20020204 In: Nature genetics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5784.	[Emergence of vancomycin-dependent enterococci following glycopeptide therapy: case report and review]. [electronic resource] by Bert, F Leflon-Guibout, V Le Grand, J Bourdon, N Nicolas-Chanoine, M-H Producer: 20090430 In: Pathologie-biologie vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5785.	Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations. [electronic resource] by Almeida, Madson Q Azevedo, Monalisa F Xekouki, Paraskevi Bimpaki, Eirini I Horvath, Anelia Collins, Michael T Karaviti, Lefkothea P Jeha, George S Bhattacharyya, Nisan Cheadle, Chris Watkins, Tonya Bourdeau, Isabelle Nesterova, Maria Stratakis, Constantine A Producer: 20120611 In: The Journal of clinical endocrinology and metabolism vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5786.	N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models. [electronic resource] by Esapa, Christopher T Hannan, Fadil M Babinsky, Valerie N Potter, Paul Thomas, Gethin P Croucher, Peter I Brown, Matthew A Brown, Steve D M Cox, Roger D Thakker, Rajesh V Producer: 20160331 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5787.	Oxidative stress-inducible truncated serine/arginine-rich splicing factor 3 regulates interleukin-8 production in human colon cancer cells. [electronic resource] by Kano, Shizuka Nishida, Kensei Kurebe, Hiroyuki Nishiyama, Chihiro Kita, Kentaro Akaike, Yoko Kajita, Keisuke Kurokawa, Ken Masuda, Kiyoshi Kuwano, Yuki Tanahashi, Toshihito Rokutan, Kazuhito Producer: 20140403 In: American journal of physiology. Cell physiology vol. 306 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5788.	Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity. [electronic resource] by Usuki, Fusako Yamashita, Akio Shiraishi, Tadafumi Shiga, Atsushi Onodera, Osamu Higuchi, Itsuro Ohno, Shigeo Producer: 20131210 In: Proceedings of the National Academy of Sciences of the United States of America vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5789.	A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. [electronic resource] by Kondo, Emiko Suzuki, Hideyuki Horii, Akira Fukushige, Shinichi Producer: 20030728 In: Cancer research vol. 63 Availability: No items available. Save to lists Add to cart (remove)
	5790.	Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. [electronic resource] by Nishiguchi, Koji M Sandberg, Michael A Gorji, Nasim Berson, Eliot L Dryja, Thaddeus P Producer: 20060516 In: Human mutation vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5791.	Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. [electronic resource] by Kim, Ja Hye Lee, Beom Hee Kim, Yoo-Mi Choi, Jin-Ho Kim, Gu-Hwan Cheon, Chong Kun Yoo, Han-Wook Producer: 20160317 In: Metabolic brain disease vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5792.	CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. [electronic resource] by Sukumaran, Salil K Stumpf, Maria Salamon, Sarah Ahmad, Ilyas Bhattacharya, Kurchi Fischer, Sarah Müller, Rolf Altmüller, Janine Budde, Birgit Thiele, Holger Tariq, Muhammad Malik, Naveed Altaf Nürnberg, Peter Baig, Shahid Mahmood Hussain, Muhammad Sajid Noegel, Angelika A Producer: 20170328 In: Molecular genetics and genomics : MGG vol. 292 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5793.	Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. [electronic resource] by Leuzzi, V Di Sabato, M L Zollino, M Montanaro, M L Seri, S Producer: 20050804 In: Neurology vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5794.	Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets. [electronic resource] by Beck-Nielsen, Signe S Brixen, Kim Gram, Jeppe Brusgaard, Klaus Producer: 20121127 In: Journal of human genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5795.	Genome sequencing identifies a basis for everolimus sensitivity. [electronic resource] by Iyer, Gopa Hanrahan, Aphrothiti J Milowsky, Matthew I Al-Ahmadie, Hikmat Scott, Sasinya N Janakiraman, Manickam Pirun, Mono Sander, Chris Socci, Nicholas D Ostrovnaya, Irina Viale, Agnes Heguy, Adriana Peng, Luke Chan, Timothy A Bochner, Bernard Bajorin, Dean F Berger, Michael F Taylor, Barry S Solit, David B Producer: 20121019 In: Science (New York, N.Y.) vol. 338 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5796.	Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations. [electronic resource] by Spinella, Jean-François Cassart, Pauline Richer, Chantal Saillour, Virginie Ouimet, Manon Langlois, Sylvie St-Onge, Pascal Sontag, Thomas Healy, Jasmine Minden, Mark D Sinnett, Daniel Producer: 20180223 In: Oncotarget vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5797.	Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20. [electronic resource] by Ishigaki, Y Li, X Serin, G Maquat, L E Producer: 20011004 In: Cell vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5798.	The zebrafish mutant gene chardonnay (cdy) encodes divalent metal transporter 1 (DMT1). [electronic resource] by Donovan, Adriana Brownlie, Alison Dorschner, Michael O Zhou, Yi Pratt, Stephen J Paw, Barry H Phillips, Ruth B Thisse, Christine Thisse, Bernard Zon, Leonard I Producer: 20030128 In: Blood vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5799.	cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. [electronic resource] by Zavadáková, Petra Fowler, Brian Suormala, Terttu Novotna, Zorka Mueller, Peter Hennermann, Julia B Zeman, Jirí Vilaseca, M Antonia Vilarinho, Laura Gutsche, Sven Wilichowski, Ekkehard Horneff, Gerd Kozich, Viktor Producer: 20060516 In: Human mutation vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5800.	Absence of dystrophin in mice reduces NO-dependent vascular function and vascular density: total recovery after a treatment with the aminoglycoside gentamicin. [electronic resource] by Loufrani, Laurent Dubroca, Caroline You, Dong Li, Z Levy, Bernard Paulin, Denise Henrion, Daniel Producer: 20040805 In: Arteriosclerosis, thrombosis, and vascular biology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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