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	5541.	Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. [electronic resource] by Schwabe, G C Tinschert, S Buschow, C Meinecke, P Wolff, G Gillessen-Kaesbach, G Oldridge, M Wilkie, A O Kömec, R Mundlos, S Producer: 20001031 In: American journal of human genetics vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5542.	Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay. [electronic resource] by Inácio, Angela Silva, Ana Luísa Pinto, Joana Ji, Xinjun Morgado, Ana Almeida, Fátima Faustino, Paula Lavinha, João Liebhaber, Stephen A Romão, Luísa Producer: 20040910 In: The Journal of biological chemistry vol. 279 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5543.	Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. [electronic resource] by Dubourg, Christèle Lazaro, Leïla Pasquier, Laurent Bendavid, Claude Blayau, Martine Le Duff, Franck Durou, Marie-Renée Odent, Sylvie David, Véronique Producer: 20041108 In: Human mutation vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5544.	A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. [electronic resource] by Prontera, P Ferrando, B Giuliani, V Falcinelli, F Mencarelli, A Rogaia, D Pasini, B Donti, E Producer: 20090330 In: Genetic counseling (Geneva, Switzerland) vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	5545.	[Recessive dystrophic bullous epidermolysis: Is the etiological treatment at the streetcorner?]. [electronic resource] by Dereure, O Producer: 20120203 In: Annales de dermatologie et de venereologie vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5546.	Inhibition of nonsense-mediated RNA decay by the tumor microenvironment promotes tumorigenesis. [electronic resource] by Wang, Ding Zavadil, Jiri Martin, Leenus Parisi, Fabio Friedman, Eugene Levy, David Harding, Heather Ron, David Gardner, Lawrence B Producer: 20111013 In: Molecular and cellular biology vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5547.	Distinct functions of the laminin β LN domain and collagen IV during cardiac extracellular matrix formation and stabilization of alary muscle attachments revealed by EMS mutagenesis in Drosophila. [electronic resource] by Hollfelder, Dominik Frasch, Manfred Reim, Ingolf Producer: 20140929 In: BMC developmental biology vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5548.	Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. [electronic resource] by Shinbrot, Eve Henninger, Erin E Weinhold, Nils Covington, Kyle R Göksenin, A Yasemin Schultz, Nikolaus Chao, Hsu Doddapaneni, HarshaVardhan Muzny, Donna M Gibbs, Richard A Sander, Chris Pursell, Zachary F Wheeler, David A Producer: 20150720 In: Genome research vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5549.	Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder. [electronic resource] by Tang, Sheng Terzic, Barbara Wang, I-Ting Judy Sarmiento, Nicolas Sizov, Katherine Cui, Yue Takano, Hajime Marsh, Eric D Zhou, Zhaolan Coulter, Douglas A Producer: 20190709 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5550.	Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. [electronic resource] by Orosz, F Oláh, J Alvarez, M Keseru, G M Szabó, B Wágner, G Kovári, Z Horányi, M Baróti, K Martial, J A Hollán, S Ovádi, J Producer: 20011221 In: Blood vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5551.	Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. [electronic resource] by Bingham, C Bulman, M P Ellard, S Allen, L I Lipkin, G W Hoff, W G Woolf, A S Rizzoni, G Novelli, G Nicholls, A J Hattersley, A T Producer: 20010215 In: American journal of human genetics vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5552.	Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. [electronic resource] by Lin, Lin Gu, Wen-Xia Ozisik, Gokhan To, Wing S Owen, Catherine J Jameson, J Larry Achermann, John C Producer: 20060918 In: The Journal of clinical endocrinology and metabolism vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5553.	Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. [electronic resource] by Zanni, G Saillour, Y Nagara, M Billuart, P Castelnau, L Moraine, C Faivre, L Bertini, E Durr, A Guichet, A Rodriguez, D des Portes, V Beldjord, C Chelly, J Producer: 20060412 In: Neurology vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5554.	Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. [electronic resource] by Suriano, Gianpaolo Yew, Sandie Ferreira, Paulo Senz, Janine Kaurah, Pardeep Ford, James M Longacre, Teri A Norton, Jeffrey A Chun, Nicki Young, Sean Oliveira, Maria J Macgillivray, Barbara Rao, Arundhati Sears, Dawn Jackson, Charles E Boyd, Jeff Yee, Cindy Deters, Carolyn Pai, G Shashidhar Hammond, Lyn S McGivern, Bobbi J Medgyesy, Diane Sartz, Denise Arun, Banu Oelschlager, Brant K Upton, Mellisa P Neufeld-Kaiser, Whitney Silva, Orlando E Donenberg, Talia R Kooby, David A Sharma, Shobha Jonsson, Björn-Anders Gronberg, Henrik Gallinger, Steve Seruca, Raquel Lynch, Henry Huntsman, David G Producer: 20060105 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5555.	The genetic influence of the nonclassical MHC molecule HLA-G on multiple sclerosis. [electronic resource] by Kroner, Antje Grimm, Alexander Johannssen, Kirsten Mäurer, Mathias Wiendl, Heinz Producer: 20070626 In: Human immunology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5556.	IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. [electronic resource] by Abuzzahab, M Jennifer Schneider, Anke Goddard, Audrey Grigorescu, Florin Lautier, Corinne Keller, Eberhard Kiess, Wieland Klammt, Jürgen Kratzsch, Jürgen Osgood, Doreen Pfäffle, Roland Raile, Klemens Seidel, Berthold Smith, Robert J Chernausek, Steven D Producer: 20031211 In: The New England journal of medicine vol. 349 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5557.	Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. [electronic resource] by Birrell, G Lampe, A Richmond, S Bruce, S N Gécz, J Lower, K Wright, M Cheetham, T D Producer: 20040824 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5558.	Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1. [electronic resource] by Zangwill, Steven D Brown, Matthew D Bryke, Christine R Cava, Joseph R Segura, Annette D Producer: 20080506 In: Congenital heart disease vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5559.	Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome. [electronic resource] by Chao, S-C Chen, J-S Tsai, C-H Lin, Jy-M Lin, Y-J Sun, H S Producer: 20100914 In: Clinical genetics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5560.	Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia. [electronic resource] by Zhang, Z-Y Zhao, X-D Jiang, L-P Liu, E-M Wang, M Yu, J Liu, P Yang, X-Q Producer: 20110202 In: Scandinavian journal of immunology vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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