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Results: 6

1.
Sara S. Cathey, Jules G. Leroy, Tim Wood, Karisa Eaves, Richard J. Simensen, Mariko Kudo, Roger E. Stevenson, Michael J. Friez
J Med Genet.
Published in final edited form as: J Med Genet. 2010 January; 47(1): 38–48. Published online 2009 July 16. doi: 10.1136/jmg.2009.067736
PMCID:
PMC3712854
2.
Changsoo Kang, Sheikh Riazuddin, Jennifer Mundorff, Donna Krasnewich, Penelope Friedman, James C. Mullikin, Dennis Drayna
N Engl J Med.
Published in final edited form as: N Engl J Med. 2010 February 25; 362(8): 677–685. Published online 2010 February 10. doi: 10.1056/NEJMoa0902630
PMCID:
PMC2936507
3.
A Raas-Rothschild, R Bargal, O Goldman, E Ben-Asher, J Groener, A Toutain, E Stemmer, Z Ben-Neriah, H Flusser, F Beemer, M Penttinen, T Olender, A Rein, G Bach, M Zeigler
J Med Genet. 2004 April; 41(4): e52. doi: 10.1136/jmg.2003.015222
PMCID:
PMC1735719
4.
Mariko Kudo, Michael S. Brem, William M. Canfield
Am J Hum Genet. 2006 March; 78(3): 451–463. Published online 2006 January 24. doi: 10.1086/500849
PMCID:
PMC1380288
5.
S Kornfeld
J Clin Invest. 1986 January; 77(1): 1–6. doi: 10.1172/JCI112262
PMCID:
PMC423299
6.
Annick Raas-Rothschild, Valerie Cormier-Daire, Ming Bao, Emmanuelle Genin, Remi Salomon, Kevin Brewer, Marsha Zeigler, Hanna Mandel, Steve Toth, Bruce Roe, Arnold Munnich, William M. Canfield
J Clin Invest. 2000 March 1; 105(5): 673–681. doi: 10.1172/JCI5826
PMCID:
PMC289169

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