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	5561.	A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. [electronic resource] by Szczepanski, Sandra Hussain, Muhammad Sajid Sur, Ilknur Altmüller, Janine Thiele, Holger Abdullah, Uzma Waseem, Syeda Seema Moawia, Abubakar Nürnberg, Gudrun Noegel, Angelika Anna Baig, Shahid Mahmood Nürnberg, Peter Producer: 20160520 In: Human genetics vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5562.	MAX Mutations in Endometrial Cancer: Clinicopathologic Associations and Recurrent MAX p.His28Arg Functional Characterization. [electronic resource] by Walker, Christopher J Rush, Craig M Dama, Paola O'Hern, Matthew J Cosgrove, Casey M Gillespie, Jessica L Zingarelli, Roman A Smith, Blair Stein, Maggie E Mutch, David G Shakya, Reena Chang, Chia-Wen Selvendiran, Karuppaiyah Song, Jonathan W Cohn, David E Goodfellow, Paul J Producer: 20190729 In: Journal of the National Cancer Institute vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5563.	POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families. [electronic resource] by Potrony, M Puig-Butille, J A Ribera-Sola, M Iyer, V Robles-Espinoza, C D Aguilera, P Carrera, C Malvehy, J Badenas, C Landi, M T Adams, D J Puig, S Producer: 20200828 In: The British journal of dermatology vol. 181 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5564.	Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. [electronic resource] by Bitoun, Emmanuelle Chavanas, Stéphane Irvine, Alan D Lonie, Lorne Bodemer, Christine Paradisi, Mauro Hamel-Teillac, Dominique Ansai, Shin-ichi Mitsuhashi, Yoshihiko Taïeb, Alain de Prost, Yves Zambruno, Giovanna Harper, John I Hovnanian, Alain Producer: 20020327 In: The Journal of investigative dermatology vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5565.	The Aspergillus nidulans xprF gene encodes a hexokinase-like protein involved in the regulation of extracellular proteases. [electronic resource] by Katz, M E Masoumi, A Burrows, S R Shirtliff, C G Cheetham, B F Producer: 20010215 In: Genetics vol. 156 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5566.	Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. [electronic resource] by Hübner, Christian A Orth, Ulrike Senning, Arne Steglich, Cordula Kohlschütter, Alfried Korinthenberg, Rudolf Gal, Andreas 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)
	5567.	von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. [electronic resource] by Schneppenheim, Reinhard Budde, Ulrich Oyen, Florian Angerhaus, Dorothea Aumann, Volker Drewke, Elke Hassenpflug, Wolf Häberle, Johannes Kentouche, Karim Kohne, Elisabeth Kurnik, Karin Mueller-Wiefel, Dirk Obser, Tobias Santer, René Sykora, Karl-Walter Producer: 20030401 In: Blood vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5568.	Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. [electronic resource] by Aguiari, Gianluca Banzi, Manuela Gessi, Stefania Cai, Yiqiang Zeggio, Emanuela Manzati, Elisa Piva, Roberta Lambertini, Elisabetta Ferrari, Luisa Peters, Dorien J Lanza, Francesco Harris, Peter C Borea, Pier Andrea Somlo, Stefan Del Senno, Laura Producer: 20040928 In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5569.	Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. [electronic resource] by Farrington-Rock, Claire Kirilova, Veneta Dillard-Telm, Lisa Borowsky, Alexander D Chalk, Sara Rock, Matthew J Cohn, Daniel H Krakow, Deborah Producer: 20080314 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5570.	Genotype-phenotype correlation in primary carnitine deficiency. [electronic resource] by Rose, Emily C di San Filippo, Cristina Amat Ndukwe Erlingsson, Uzochi C Ardon, Orly Pasquali, Marzia Longo, Nicola Producer: 20120423 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5571.	Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. [electronic resource] by Purevjav, Enkhsaikhan Arimura, Takuro Augustin, Sibylle Huby, Anne-Cecile Takagi, Ken Nunoda, Shinichi Kearney, Debra L Taylor, Michael D Terasaki, Fumio Bos, Johan M Ommen, Steve R Shibata, Hiroki Takahashi, Megumi Itoh-Satoh, Manatsu McKenna, William J Murphy, Ross T Labeit, Siegfried Yamanaka, Yoichi Machida, Noboru Park, Jeong-Euy Alexander, Peta M A Weintraub, Robert G Kitaura, Yasushi Ackerman, Michael J Kimura, Akinori Towbin, Jeffrey A Producer: 20120906 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5572.	Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. [electronic resource] by Witsch-Baumgartner, M Fitzky, B U Ogorelkova, M Kraft, H G Moebius, F F Glossmann, H Seedorf, U Gillessen-Kaesbach, G Hoffmann, G F Clayton, P Kelley, R I Utermann, G Producer: 20000330 In: American journal of human genetics vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5573.	Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay. [electronic resource] by Sarroca, Carlos Peltomäki, Päivi Alfano, Nora Tedesco, Gladys Della Valle, Adriana Dominguez, Alejandra Lynch, Henry T Producer: 20030507 In: Cancer genetics and cytogenetics vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5574.	Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes. [electronic resource] by Lambert, A Paul Ellard, Sian Allen, Lisa I S Gallen, Ian W Gillespie, Kathleen M Bingley, Polly J Hattersley, Andrew T Producer: 20030731 In: Diabetes care vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5575.	Insulin receptor substrate and p55 orthologous adaptor proteins function in the Caenorhabditis elegans daf-2/insulin-like signaling pathway. [electronic resource] by Wolkow, Catherine A Muñoz, Manuel J Riddle, Donald L Ruvkun, Gary Producer: 20030212 In: The Journal of biological chemistry vol. 277 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5576.	Lack of TXNIP protects against mitochondria-mediated apoptosis but not against fatty acid-induced ER stress-mediated beta-cell death. [electronic resource] by Chen, Junqin Fontes, Ghislaine Saxena, Geetu Poitout, Vincent Shalev, Anath Producer: 20100224 In: Diabetes vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5577.	De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system. [electronic resource] by Schniederjan, Matthew J Shehata, Bahig Brat, Daniel J Esiashvili, Natia Janss, Anna J Producer: 20091117 In: Pediatric blood & cancer vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5578.	Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in alpha-spectrin-deficient red cells. [electronic resource] by Robledo, Raymond F Lambert, Amy J Birkenmeier, Connie S Cirlan, Marius V Cirlan, Andreea Flavia M Campagna, Dean R Lux, Samuel E Peters, Luanne L Producer: 20100402 In: Blood vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5579.	Detection and characterization of measles virus strains in cases of subacute sclerosing panencephalitis in Croatia. [electronic resource] by Forcić, Dubravko Baricević, Marijana Zgorelec, Renata Kruzić, Vjekoslava Kaić, Bernard Marina, Branka Marusić Della Sojat, Ljerka Cvitanović Tesović, Goran Mazuran, Renata Producer: 20040317 In: Virus research vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5580.	Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. [electronic resource] by Garcia-Gonzalez, Miguel A Jones, Jeffrey G Allen, Susan K Palatucci, Christopher M Batish, Sat D Seltzer, William K Lan, Zheng Allen, Erica Qian, Feng Lens, Xose M Pei, York Germino, Gregory G Watnick, Terry J Producer: 20071129 In: Molecular genetics and metabolism vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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