Your search returned 28 results.

Results
	21.	Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. [electronic resource] by Hawkins, Malcolm Boyle, Jennifer Wright, Kathleen E Elles, Rob Ramsden, Simon C O'Grady, Anna Sweeney, Michael Barton, David E Burgess, Trent Moore, Melanie Burns, Chris Stacey, Glyn Gray, Elaine Metcalfe, Paul Hawkins, J Ross Producer: 20110328 In: European journal of human genetics : EJHG vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux. [electronic resource] by Darlow, John M Darlay, Rebecca Dobson, Mark G Stewart, Aisling Charoen, Pimphen Southgate, Jennifer Baker, Simon C Xu, Yaobo Hunziker, Manuela Lambert, Heather J Green, Andrew J Santibanez-Koref, Mauro Sayer, John A Goodship, Timothy H J Puri, Prem Woolf, Adrian S Kenda, Rajko B Barton, David E Cordell, Heather J Producer: 20190729 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux. [electronic resource] by Darlow, John M Darlay, Rebecca Dobson, Mark G Stewart, Aisling Charoen, Pimphen Southgate, Jennifer Baker, Simon C Xu, Yaobo Hunziker, Manuela Lambert, Heather J Green, Andrew J Santibanez-Koref, Mauro Sayer, John A Goodship, Timothy H J Puri, Prem Woolf, Adrian S Kenda, Rajko B Barton, David E Cordell, Heather J Publication details: Scientific reports 01 2018 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome. [electronic resource] by Farrell, Michael P Hughes, David J Berry, Ian R Gallagher, David J Glogowski, Emily A Payne, Stewart J Kennedy, Michael J Clarke, Róisín M White, Susan A Muldoon, Cian B Macdonald, Fiona Rehal, Pauline Crompton, Danielle Roring, Solvig Duke, Sarah T McDevitt, Trudi Barton, David E Hodgson, Shirley V Green, Andrew J Daly, Peter A Producer: 20130503 In: Familial cancer vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Developing a sustainable process to provide quality control materials for genetic testing. [electronic resource] by Chen, Bin O' Connell, Catherine D Boone, D Joe Amos, Jean A Beck, Jeanne C Chan, Maria M Farkas, Daniel H Lebo, Roger V Richards, Carolyn Sue Roa, Benjamin B Silverman, Lawrence M Barton, David E Bejjani, Bassem A Belloni, Dorothy R Bernacki, Susan H Caggana, Michele Charache, Patricia Dequeker, Elisabeth Ferreira-Gonzalez, Andrea Friedman, Kenneth J Greene, Carol L Grody, Wayne W Highsmith, William Edward Hinkel, Cecelia S Kalman, Lisa V Lubin, Ira M Lyon, Elaine Payne, Deborah A Pratt, Victoria M Rohlfs, Elizabeth Rundell, Clark A Schneider, Erasmus Willey, Ann M Williams, Laurina O Willey, James C Winn-Deen, Emily S Wolff, Daynna J Producer: 20060120 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Urinary tract effects of HPSE2 mutations. [electronic resource] by Stuart, Helen M Roberts, Neil A Hilton, Emma N McKenzie, Edward A Daly, Sarah B Hadfield, Kristen D Rahal, Jeffery S Gardiner, Natalie J Tanley, Simon W Lewis, Malcolm A Sites, Emily Angle, Brad Alves, Cláudia Lourenço, Teresa Rodrigues, Márcia Calado, Angelina Amado, Marta Guerreiro, Nancy Serras, Inês Beetz, Christian Varga, Rita-Eva Silay, Mesrur Selcuk Darlow, John M Dobson, Mark G Barton, David E Hunziker, Manuela Puri, Prem Feather, Sally A Goodship, Judith A Goodship, Timothy H J Lambert, Heather J Cordell, Heather J Saggar, Anand Kinali, Maria Lorenz, Christian Moeller, Kristina Schaefer, Franz Bayazit, Aysun K Weber, Stefanie Newman, William G Woolf, Adrian S Producer: 20150611 In: Journal of the American Society of Nephrology : JASN vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	The copy number variation landscape of congenital anomalies of the kidney and urinary tract. [electronic resource] by Verbitsky, Miguel Westland, Rik Perez, Alejandra Kiryluk, Krzysztof Liu, Qingxue Krithivasan, Priya Mitrotti, Adele Fasel, David A Batourina, Ekaterina Sampson, Matthew G Bodria, Monica Werth, Max Kao, Charlly Martino, Jeremiah Capone, Valentina P Vivante, Asaf Shril, Shirlee Kil, Byum Hee Marasà, Maddalena Zhang, Jun Y Na, Young-Ji Lim, Tze Y Ahram, Dina Weng, Patricia L Heinzen, Erin L Carrea, Alba Piaggio, Giorgio Gesualdo, Loreto Manca, Valeria Masnata, Giuseppe Gigante, Maddalena Cusi, Daniele Izzi, Claudia Scolari, Francesco van Wijk, Joanna A E Saraga, Marijan Santoro, Domenico Conti, Giovanni Zamboli, Pasquale White, Hope Drozdz, Dorota Zachwieja, Katarzyna Miklaszewska, Monika Tkaczyk, Marcin Tomczyk, Daria Krakowska, Anna Sikora, Przemyslaw Jarmoliński, Tomasz Borszewska-Kornacka, Maria K Pawluch, Robert Szczepanska, Maria Adamczyk, Piotr Mizerska-Wasiak, Malgorzata Krzemien, Grazyna Szmigielska, Agnieszka Zaniew, Marcin Dobson, Mark G Darlow, John M Puri, Prem Barton, David E Furth, Susan L Warady, Bradley A Gucev, Zoran Lozanovski, Vladimir J Tasic, Velibor Pisani, Isabella Allegri, Landino Rodas, Lida M Campistol, Josep M Jeanpierre, Cécile Alam, Shumyle Casale, Pasquale Wong, Craig S Lin, Fangming Miranda, Débora M Oliveira, Eduardo A Simões-E-Silva, Ana Cristina Barasch, Jonathan M Levy, Brynn Wu, Nan Hildebrandt, Friedhelm Ghiggeri, Gian Marco Latos-Bielenska, Anna Materna-Kiryluk, Anna Zhang, Feng Hakonarson, Hakon Papaioannou, Virginia E Mendelsohn, Cathy L Gharavi, Ali G Sanna-Cherchi, Simone Producer: 20190424 In: Nature genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. [electronic resource] by Verbitsky, Miguel Westland, Rik Perez, Alejandra Kiryluk, Krzysztof Liu, Qingxue Krithivasan, Priya Mitrotti, Adele Fasel, David A Batourina, Ekaterina Sampson, Matthew G Bodria, Monica Werth, Max Kao, Charlly Martino, Jeremiah Capone, Valentina P Vivante, Asaf Shril, Shirlee Kil, Byum Hee Marasa, Maddalena Zhang, Jun Y Na, Young-Ji Lim, Tze Y Ahram, Dina Weng, Patricia L Heinzen, Erin L Carrea, Alba Piaggio, Giorgio Gesualdo, Loreto Manca, Valeria Masnata, Giuseppe Gigante, Maddalena Cusi, Daniele Izzi, Claudia Scolari, Francesco van Wijk, Joanna A E Saraga, Marijan Santoro, Domenico Conti, Giovanni Zamboli, Pasquale White, Hope Drozdz, Dorota Zachwieja, Katarzyna Miklaszewska, Monika Tkaczyk, Marcin Tomczyk, Daria Krakowska, Anna Sikora, Przemyslaw Jarmoliński, Tomasz Borszewska-Kornacka, Maria K Pawluch, Robert Szczepanska, Maria Adamczyk, Piotr Mizerska-Wasiak, Malgorzata Krzemien, Grazyna Szmigielska, Agnieszka Zaniew, Marcin Dobson, Mark G Darlow, John M Puri, Prem Barton, David E Furth, Susan L Warady, Bradley A Gucev, Zoran Lozanovski, Vladimir J Tasic, Velibor Pisani, Isabella Allegri, Landino Rodas, Lida M Campistol, Josep M Jeanpierre, Cécile Alam, Shumyle Casale, Pasquale Wong, Craig S Lin, Fangming Miranda, Débora M Oliveira, Eduardo A Simoes-E-Silva, Ana Cristina Barasch, Jonathan M Levy, Brynn Wu, Nan Hildebrandt, Friedhelm Ghiggeri, Gian Marco Latos-Bielenska, Anna Materna-Kiryluk, Anna Zhang, Feng Hakonarson, Hakon Papaioannou, Virginia E Mendelsohn, Cathy L Gharavi, Ali G Sanna-Cherchi, Simone Publication details: Nature genetics 04 2019 In: Nature genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)