Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 17

1.
Catherine Boileau, Dong-Chuan Guo, Nadine Hanna, Ellen S. Regalado, Delphine Detaint, Limin Gong, Mathilde Varret, Siddharth Prakash, Alexander H. Li, Hyacintha d’Indy, Alan C. Braverman, Bernard Grandchamp, Callie S. Kwartler, Laurent Gouya, Regie Lyn P. Santos-Cortez, Marianne Abifadel, Suzanne M. Leal, Christine Muti, Jay Shendure, Marie-Sylvie Gross, Mark J. Rieder, Alec Vahanian, Deborah A. Nickerson, Jean Baptiste Michel, National Heart Lung and Blood Institute (NHLBI) Go Exome Sequencing Project, Guillaume Jondeau, Dianna M. Milewicz
Nat Genet.
Published in final edited form as: Nat Genet. 2012 August; 44(8): 916–921. Published online 2012 July 8. doi: 10.1038/ng.2348
PMCID:
PMC4033668
2.
Dong-Chuan Guo, Ellen S. Regalado, Charles Minn, Van Tran-Fadulu, Joshua Coney, Jiumei Cao, Min Wang, Robert K. Yu, Anthony L. Estrera, Hazim J. Safi, Sanjay S. Shete, Dianna M. Milewicz
Circ Cardiovasc Genet.
Published in final edited form as: Circ Cardiovasc Genet. 2011 February; 4(1): 36–42. Published online 2010 December 16. doi: 10.1161/CIRCGENETICS.110.958066
PMCID:
PMC3739448
3.
Ian M. Campbell, Katarzyna E. Kolodziejska, Michael M. Quach, Varina Louise Wolf, Sau Wai Cheung, Seema R. Lalani, Melissa B. Ramocki, Pawel Stankiewicz
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2011 June; 0(6): 1442–1447. Published online 2011 May 12. doi: 10.1002/ajmg.a.34015
PMCID:
PMC3646644
4.
Mark E. Lindsay, Harry C. Dietz
Nature.
Published in final edited form as: Nature. 2011 May 19; 473(7347): 308–316. doi: 10.1038/nature10145
PMCID:
PMC3622871
5.
Mark E. Lindsay, Dorien Schepers, Nikhita Ajit Bolar, Jefferson Doyle, Elena Gallo, Justyna Fert-Bober, Marlies J.E. Kempers, Elliot K. Fishman, Yichun Chen, Loretha Myers, Djahita Bjeda, Gretchen Oswald, Abdullah F. Elias, Howard P. Levy, Britt-Marie Anderlid, Margaret H. Yang, Ernie M.H.F. Bongers, Janneke Timmermans, Alan C. Braverman, Natalie Canham, Geert R. Mortier, Han G. Brunner, Peter H. Byers, Jennifer Van Eyk, Lut Van Laer, Harry C. Dietz, Bart L. Loeys
Nat Genet.
Published in final edited form as: Nat Genet. 2012 July 8; 44(8): 922–927. Published online 2012 July 8. doi: 10.1038/ng.2349
PMCID:
PMC3616632
6.
Alexander J. Doyle, Jefferson J. Doyle, Seneca L. Bessling, Samantha Maragh, Mark E. Lindsay, Dorien Schepers, Elisabeth Gillis, Geert Mortier, Tessa Homfray, Kimberly Sauls, Russell A. Norris, Nicholas D. Huso, Dan Leahy, David W. Mohr, Mark J. Caulfield, Alan F. Scott, Anne Destrée, Raoul C. Hennekam, Pamela H. Arn, Cynthia J. Curry, Lut Van Laer, Andrew S. McCallion, Bart L. Loeys, Harry C. Dietz
Nat Genet.
Published in final edited form as: Nat Genet. 2012 November; 44(11): 1249–1254. Published online 2012 September 30. doi: 10.1038/ng.2421
PMCID:
PMC3545695
7.
Virginie Carmignac, Julien Thevenon, Lesley Adès, Bert Callewaert, Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri Plauchu, Ghislaine Plessis, Julie De Backer, Anne Child, Gavin Arno, Laurence Duplomb, Patrick Callier, Bernard Aral, Pierre Vabres, Nadège Gigot, Eloisa Arbustini, Maurizia Grasso, Peter N. Robinson, Cyril Goizet, Clarisse Baumann, Maja Di Rocco, Jaime Sanchez Del Pozo, Frédéric Huet, Guillaume Jondeau, Gwenaëlle Collod-Beroud, Christophe Beroud, Jeanne Amiel, Valérie Cormier-Daire, Jean-Baptiste Rivière, Catherine Boileau, Anne De Paepe, Laurence Faivre
Am J Hum Genet. 2012 November 2; 91(5): 950–957. doi: 10.1016/j.ajhg.2012.10.002
PMCID:
PMC3487125
8.
Mine Arslan-Kirchner, Jörg T Epplen, Laurence Faivre, Guillaume Jondeau, Jörg Schmidtke, Anne De Paepe, Bart Loeys
Eur J Hum Genet. 2011 October; 19(10) Published online 2011 April 27. doi: 10.1038/ejhg.2011.68
PMCID:
PMC3190257
9.
Anji T. Yetman, Rebecca S. Beroukhim, Dunbar D. Ivy, David Manchester
Pediatrics.
Published in final edited form as: Pediatrics. 2007 May; 119(5): e1199–e1202. doi: 10.1542/peds.2006-2886
PMCID:
PMC3131201
10.
Marjolijn Renard, Tammy Holm, Regan Veith, Bert L Callewaert, Lesley C Adès, Osman Baspinar, Angela Pickart, Majed Dasouki, Juliane Hoyer, Anita Rauch, Pamela Trapane, Michael G Earing, Paul J Coucke, Lynn Y Sakai, Harry C Dietz, Anne M De Paepe, Bart L Loeys
Eur J Hum Genet. 2010 August; 18(8): 895–901. Published online 2010 April 14. doi: 10.1038/ejhg.2010.45
PMCID:
PMC2987390
11.
Li Wang, Dong-chuan Guo, Jiumei Cao, Limin Gong, Kristine E. Kamm, Ellen Regalado, Li Li, Sanjay Shete, Wei-Qi He, Min-Sheng Zhu, Stephan Offermanns, Dawna Gilchrist, John Elefteriades, James T. Stull, Dianna M. Milewicz
Am J Hum Genet. 2010 November 12; 87(5): 701–707. doi: 10.1016/j.ajhg.2010.10.006
PMCID:
PMC2978973
12.
Scott A LeMaire, Hariyadarshi Pannu, Van Tran-Fadulu, Stacey A Carter, Joseph S Coselli, Dianna M Milewicz
Nat Clin Pract Cardiovasc Med.
Published in final edited form as: Nat Clin Pract Cardiovasc Med. 2007 March; 4(3): 167–171. doi: 10.1038/ncpcardio0797
PMCID:
PMC2561071
13.
Takeshi Mizuguchi, Gwenaëlle Collod-Beroud, Takushi Akiyama, Marianne Abifadel, Naoki Harada, Takayuki Morisaki, Delphine Allard, Mathilde Varret, Mireille Claustres, Hiroko Morisaki, Makoto Ihara, Akira Kinoshita, Koh-ichiro Yoshiura, Claudine Junien, Tadashi Kajii, Guillaume Jondeau, Tohru Ohta, Tatsuya Kishino, Yoichi Furukawa, Yusuke Nakamura, Norio Niikawa, Catherine Boileau, Naomichi Matsumoto
Nat Genet.
Published in final edited form as: Nat Genet. 2004 August; 36(8): 855–860. Published online 2004 July 4. doi: 10.1038/ng1392
PMCID:
PMC2230615
14.
S Nistri, M Sorbo, M Marin, M Palisi, R Scognamiglio, G Thiene
Heart. 1999 July; 82(1): 19–22.
PMCID:
PMC1729087
15.
Daniel P Judge, Harry C Dietz
Lancet.
Published in final edited form as: Lancet. 2005 December 3; 366(9501): 1965–1976. doi: 10.1016/S0140-6736(05)67789-6
PMCID:
PMC1513064
16.
Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim, Brad Angle, Lihua Y. Marmorstein, Zsolt Urban
Am J Hum Genet. 2006 June; 78(6): 1075–1080. Published online 2006 April 10. doi: 10.1086/504304
PMCID:
PMC1474103
17.
Ulrike Schwarze, Ryu-Ichiro Hata, Victor A. McKusick, Hiroshi Shinkai, H. Eugene Hoyme, Reed E. Pyeritz, Peter H. Byers
Am J Hum Genet. 2004 May; 74(5): 917–930. Published online 2004 April 9. doi: 10.1086/420794
PMCID:
PMC1181985

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Write to the Help Desk