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	81.	Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. [electronic resource] by Beunders, Gea Voorhoeve, Els Golzio, Christelle Pardo, Luba M Rosenfeld, Jill A Talkowski, Michael E Simonic, Ingrid Lionel, Anath C Vergult, Sarah Pyatt, Robert E van de Kamp, Jiddeke Nieuwint, Aggie Weiss, Marjan M Rizzu, Patrizia Verwer, Lucilla E N I van Spaendonk, Rosalina M L Shen, Yiping Wu, Bai-lin Yu, Tingting Yu, Yongguo Chiang, Colby Gusella, James F Lindgren, Amelia M Morton, Cynthia C van Binsbergen, Ellen Bulk, Saskia van Rossem, Els Vanakker, Olivier Armstrong, Ruth Park, Soo-Mi Greenhalgh, Lynn Maye, Una Neill, Nicholas J Abbott, Kristin M Sell, Susan Ladda, Roger Farber, Darren M Bader, Patricia I Cushing, Tom Drautz, Joanne M Konczal, Laura Nash, Patricia de Los Reyes, Emily Carter, Melissa T Hopkins, Elizabeth Marshall, Christian R Osborne, Lucy R Gripp, Karen W Thrush, Devon Lamb Hashimoto, Sayaka Gastier-Foster, Julie M Astbury, Caroline Ylstra, Bauke Meijers-Heijboer, Hanne Posthuma, Danielle Menten, Björn Mortier, Geert Scherer, Stephen W Eichler, Evan E Girirajan, Santhosh Katsanis, Nicholas Groffen, Alexander J Sistermans, Erik A Producer: 20130404 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. [electronic resource] by Shaw, Natalie D Brand, Harrison Kupchinsky, Zachary A Bengani, Hemant Plummer, Lacey Jones, Takako I Erdin, Serkan Williamson, Kathleen A Rainger, Joe Stortchevoi, Alexei Samocha, Kaitlin Currall, Benjamin B Dunican, Donncha S Collins, Ryan L Willer, Jason R Lek, Angela Lek, Monkol Nassan, Malik Pereira, Shahrin Kammin, Tammy Lucente, Diane Silva, Alexandra Seabra, Catarina M Chiang, Colby An, Yu Ansari, Morad Rainger, Jacqueline K Joss, Shelagh Smith, Jill Clayton Lippincott, Margaret F Singh, Sylvia S Patel, Nirav Jing, Jenny W Law, Jennifer R Ferraro, Nalton Verloes, Alain Rauch, Anita Steindl, Katharina Zweier, Markus Scheer, Ianina Sato, Daisuke Okamoto, Nobuhiko Jacobsen, Christina Tryggestad, Jeanie Chernausek, Steven Schimmenti, Lisa A Brasseur, Benjamin Cesaretti, Claudia García-Ortiz, Jose E Buitrago, Tatiana Pineda Silva, Orlando Perez Hoffman, Jodi D Mühlbauer, Wolfgang Ruprecht, Klaus W Loeys, Bart L Shino, Masato Kaindl, Angela M Cho, Chie-Hee Morton, Cynthia C Meehan, Richard R van Heyningen, Veronica Liao, Eric C Balasubramanian, Ravikumar Hall, Janet E Seminara, Stephanie B Macarthur, Daniel Moore, Steven A Yoshiura, Koh-Ichiro Gusella, James F Marsh, Joseph A Graham, John M Lin, Angela E Katsanis, Nicholas Jones, Peter L Crowley, William F Davis, Erica E FitzPatrick, David R Talkowski, Michael E Producer: 20170905 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. [electronic resource] by Shaw, Natalie D Brand, Harrison Kupchinsky, Zachary A Bengani, Hemant Plummer, Lacey Jones, Takako I Erdin, Serkan Williamson, Kathleen A Rainger, Joe Stortchevoi, Alexei Samocha, Kaitlin Currall, Benjamin B Dunican, Donncha S Collins, Ryan L Willer, Jason R Lek, Angela Lek, Monkol Nassan, Malik Pereira, Shahrin Kammin, Tammy Lucente, Diane Silva, Alexandra Seabra, Catarina M Chiang, Colby An, Yu Ansari, Morad Rainger, Jacqueline K Joss, Shelagh Smith, Jill Clayton Lippincott, Margaret F Singh, Sylvia S Patel, Nirav Jing, Jenny W Law, Jennifer R Ferraro, Nalton Verloes, Alain Rauch, Anita Steindl, Katharina Zweier, Markus Scheer, Ianina Sato, Daisuke Okamoto, Nobuhiko Jacobsen, Christina Tryggestad, Jeanie Chernausek, Steven Schimmenti, Lisa A Brasseur, Benjamin Cesaretti, Claudia García-Ortiz, Jose E Buitrago, Tatiana Pineda Silva, Orlando Perez Hoffman, Jodi D Mühlbauer, Wolfgang Ruprecht, Klaus W Loeys, Bart L Shino, Masato Kaindl, Angela M Cho, Chie-Hee Morton, Cynthia C Meehan, Richard R van Heyningen, Veronica Liao, Eric C Balasubramanian, Ravikumar Hall, Janet E Seminara, Stephanie B Macarthur, Daniel Moore, Steven A Yoshiura, Koh-Ichiro Gusella, James F Marsh, Joseph A Graham, John M Lin, Angela E Katsanis, Nicholas Jones, Peter L Crowley, William F Davis, Erica E FitzPatrick, David R Talkowski, Michael E Publication details: Nature genetics 05 2017 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. [electronic resource] by Lionel, Anath C Tammimies, Kristiina Vaags, Andrea K Rosenfeld, Jill A Ahn, Joo Wook Merico, Daniele Noor, Abdul Runke, Cassandra K Pillalamarri, Vamsee K Carter, Melissa T Gazzellone, Matthew J Thiruvahindrapuram, Bhooma Fagerberg, Christina Laulund, Lone W Pellecchia, Giovanna Lamoureux, Sylvia Deshpande, Charu Clayton-Smith, Jill White, Ann C Leather, Susan Trounce, John Melanie Bedford, H Hatchwell, Eli Eis, Peggy S Yuen, Ryan K C Walker, Susan Uddin, Mohammed Geraghty, Michael T Nikkel, Sarah M Tomiak, Eva M Fernandez, Bridget A Soreni, Noam Crosbie, Jennifer Arnold, Paul D Schachar, Russell J Roberts, Wendy Paterson, Andrew D So, Joyce Szatmari, Peter Chrysler, Christina Woodbury-Smith, Marc Brian Lowry, R Zwaigenbaum, Lonnie Mandyam, Divya Wei, John Macdonald, Jeffrey R Howe, Jennifer L Nalpathamkalam, Thomas Wang, Zhuozhi Tolson, Daniel Cobb, David S Wilks, Timothy M Sorensen, Mark J Bader, Patricia I An, Yu Wu, Bai-Lin Musumeci, Sebastiano Antonino Romano, Corrado Postorivo, Diana Nardone, Anna M Monica, Matteo Della Scarano, Gioacchino Zoccante, Leonardo Novara, Francesca Zuffardi, Orsetta Ciccone, Roberto Antona, Vincenzo Carella, Massimo Zelante, Leopoldo Cavalli, Pietro Poggiani, Carlo Cavallari, Ugo Argiropoulos, Bob Chernos, Judy Brasch-Andersen, Charlotte Speevak, Marsha Fichera, Marco Ogilvie, Caroline Mackie Shen, Yiping Hodge, Jennelle C Talkowski, Michael E Stavropoulos, Dimitri J Marshall, Christian R Scherer, Stephen W Producer: 20141203 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	Multi-platform discovery of haplotype-resolved structural variation in human genomes. [electronic resource] by Chaisson, Mark J P Sanders, Ashley D Zhao, Xuefang Malhotra, Ankit Porubsky, David Rausch, Tobias Gardner, Eugene J Rodriguez, Oscar L Guo, Li Collins, Ryan L Fan, Xian Wen, Jia Handsaker, Robert E Fairley, Susan Kronenberg, Zev N Kong, Xiangmeng Hormozdiari, Fereydoun Lee, Dillon Wenger, Aaron M Hastie, Alex R Antaki, Danny Anantharaman, Thomas Audano, Peter A Brand, Harrison Cantsilieris, Stuart Cao, Han Cerveira, Eliza Chen, Chong Chen, Xintong Chin, Chen-Shan Chong, Zechen Chuang, Nelson T Lambert, Christine C Church, Deanna M Clarke, Laura Farrell, Andrew Flores, Joey Galeev, Timur Gorkin, David U Gujral, Madhusudan Guryev, Victor Heaton, William Haynes Korlach, Jonas Kumar, Sushant Kwon, Jee Young Lam, Ernest T Lee, Jong Eun Lee, Joyce Lee, Wan-Ping Lee, Sau Peng Li, Shantao Marks, Patrick Viaud-Martinez, Karine Meiers, Sascha Munson, Katherine M Navarro, Fabio C P Nelson, Bradley J Nodzak, Conor Noor, Amina Kyriazopoulou-Panagiotopoulou, Sofia Pang, Andy W C Qiu, Yunjiang Rosanio, Gabriel Ryan, Mallory Stütz, Adrian Spierings, Diana C J Ward, Alistair Welch, AnneMarie E Xiao, Ming Xu, Wei Zhang, Chengsheng Zhu, Qihui Zheng-Bradley, Xiangqun Lowy, Ernesto Yakneen, Sergei McCarroll, Steven Jun, Goo Ding, Li Koh, Chong Lek Ren, Bing Flicek, Paul Chen, Ken Gerstein, Mark B Kwok, Pui-Yan Lansdorp, Peter M Marth, Gabor T Sebat, Jonathan Shi, Xinghua Bashir, Ali Ye, Kai Devine, Scott E Talkowski, Michael E Mills, Ryan E Marschall, Tobias Korbel, Jan O Eichler, Evan E Lee, Charles Producer: 20190528 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	86.	The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. [electronic resource] by Redin, Claire Brand, Harrison Collins, Ryan L Kammin, Tammy Mitchell, Elyse Hodge, Jennelle C Hanscom, Carrie Pillalamarri, Vamsee Seabra, Catarina M Abbott, Mary-Alice Abdul-Rahman, Omar A Aberg, Erika Adley, Rhett Alcaraz-Estrada, Sofia L Alkuraya, Fowzan S An, Yu Anderson, Mary-Anne Antolik, Caroline Anyane-Yeboa, Kwame Atkin, Joan F Bartell, Tina Bernstein, Jonathan A Beyer, Elizabeth Blumenthal, Ian Bongers, Ernie M H F Brilstra, Eva H Brown, Chester W Brüggenwirth, Hennie T Callewaert, Bert Chiang, Colby Corning, Ken Cox, Helen Cuppen, Edwin Currall, Benjamin B Cushing, Tom David, Dezso Deardorff, Matthew A Dheedene, Annelies D'Hooghe, Marc de Vries, Bert B A Earl, Dawn L Ferguson, Heather L Fisher, Heather FitzPatrick, David R Gerrol, Pamela Giachino, Daniela Glessner, Joseph T Gliem, Troy Grady, Margo Graham, Brett H Griffis, Cristin Gripp, Karen W Gropman, Andrea L Hanson-Kahn, Andrea Harris, David J Hayden, Mark A Hill, Rosamund Hochstenbach, Ron Hoffman, Jodi D Hopkin, Robert J Hubshman, Monika W Innes, A Micheil Irons, Mira Irving, Melita Jacobsen, Jessie C Janssens, Sandra Jewett, Tamison Johnson, John P Jongmans, Marjolijn C Kahler, Stephen G Koolen, David A Korzelius, Jerome Kroisel, Peter M Lacassie, Yves Lawless, William Lemyre, Emmanuelle Leppig, Kathleen Levin, Alex V Li, Haibo Li, Hong Liao, Eric C Lim, Cynthia Lose, Edward J Lucente, Diane Macera, Michael J Manavalan, Poornima Mandrile, Giorgia Marcelis, Carlo L Margolin, Lauren Mason, Tamara Masser-Frye, Diane McClellan, Michael W Mendoza, Cinthya J Zepeda Menten, Björn Middelkamp, Sjors Mikami, Liya R Moe, Emily Mohammed, Shehla Mononen, Tarja Mortenson, Megan E Moya, Graciela Nieuwint, Aggie W Ordulu, Zehra Parkash, Sandhya Pauker, Susan P Pereira, Shahrin Perrin, Danielle Phelan, Katy Aguilar, Raul E Piña Poddighe, Pino J Pregno, Giulia Raskin, Salmo Reis, Linda Rhead, William Rita, Debra Renkens, Ivo Roelens, Filip Ruliera, Jayla Rump, Patrick Schilit, Samantha L P Shaheen, Ranad Sparkes, Rebecca Spiegel, Erica Stevens, Blair Stone, Matthew R Tagoe, Julia Thakuria, Joseph V van Bon, Bregje W van de Kamp, Jiddeke van Der Burgt, Ineke van Essen, Ton van Ravenswaaij-Arts, Conny M van Roosmalen, Markus J Vergult, Sarah Volker-Touw, Catharina M L Warburton, Dorothy P Waterman, Matthew J Wiley, Susan Wilson, Anna Yerena-de Vega, Maria de la Concepcion A Zori, Roberto T Levy, Brynn Brunner, Han G de Leeuw, Nicole Kloosterman, Wigard P Thorland, Erik C Morton, Cynthia C Gusella, James F Talkowski, Michael E Producer: 20170907 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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