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Contents: April 2009, Volume 46, Number 4 [Index by Author]

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To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' button. To see one abstract at a time, click its [Abstract] link.

Original articles: Back

H Schmidt, W Kern, R Giese, M Hallschmid, and A Enders
J Med Genet 2009; 46: 217-222.
Published Online First: 23 October 2008. doi:10.1136/jmg.2008.062141
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F D Hannes, A J Sharp, H C Mefford, T de Ravel, C A Ruivenkamp, M H Breuning, J-P Fryns, K Devriendt, G Van Buggenhout, A Vogels, H Stewart, R C Hennekam, G M Cooper, R Regan, S J L Knight, E E Eichler, and J R Vermeesch
J Med Genet 2009; 46: 223-232.
Published Online First: 11 June 2008. doi:10.1136/jmg.2007.055202
[Abstract] [Full Text] [PDF] [Request Permissions]This article has been Unlocked [web only appendices]
A Willaert, F Malfait, S Symoens, K Gevaert, H Kayserili, A Megarbane, G Mortier, J G Leroy, P J Coucke, and A De Paepe
J Med Genet 2009; 46: 233-241.
Published Online First: 16 December 2008. doi:10.1136/jmg.2008.062729
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D T Miller, Y Shen, L A Weiss, J Korn, I Anselm, C Bridgemohan, G F Cox, H Dickinson, J Gentile, D J Harris, V Hegde, R Hundley, O Khwaja, S Kothare, C Luedke, R Nasir, A Poduri, K Prasad, P Raffalli, A Reinhard, S E Smith, M M Sobeih, J S Soul, J Stoler, M Takeoka, W-H Tan, J Thakuria, R Wolff, R Yusupov, J F Gusella, M J Daly, and B-L Wu
J Med Genet 2009; 46: 242-248.
Published Online First: 19 September 2008. doi:10.1136/jmg.2008.059907
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A K Nicholas, E A Swanson, J J Cox, G Karbani, S Malik, K Springell, D Hampshire, M Ahmed, J Bond, D Di Benedetto, M Fichera, C Romano, W B Dobyns, and C G Woods
J Med Genet 2009; 46: 249-253.
Published Online First: 21 November 2008. doi:10.1136/jmg.2008.062380
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D G R Evans, A D Baildam, E Anderson, A Brain, A Shenton, H F A Vasen, D Eccles, A Lucassen, G Pichert, H Hamed, P Moller, L Maehle, P J Morrison, D Stoppat-Lyonnet, H Gregory, E Smyth, D Niederacher, C Nestle-Krämling, J Campbell, P Hopwood, F Lalloo, and A Howell
J Med Genet 2009; 46: 254-258.
Published Online First: 7 November 2008. doi:10.1136/jmg.2008.062232
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T Tucker, C Schnabel, M Hartmann, R E Friedrich, I Frieling, H-P Kruse, V-F Mautner, and J M Friedman
J Med Genet 2009; 46: 259-265.
Published Online First: 9 December 2008. doi:10.1136/jmg.2008.061895
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E Berry-Kravis, D Hessl, S Coffey, C Hervey, A Schneider, J Yuhas, J Hutchison, M Snape, M Tranfaglia, D V Nguyen, and R Hagerman
J Med Genet 2009; 46: 266-271.
Published Online First: 6 January 2009. doi:10.1136/jmg.2008.063701
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Mutation reports: Back

N Hilgert, K Kahrizi, N Dieltjens, N Bazazzadegan, H Najmabadi, R J H Smith, and G Van Camp
J Med Genet 2009; 46: 272-276. doi:10.1136/jmg.2008.060947
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I Ebermann, M H J Wiesen, E Zrenner, I Lopez, R Pigeon, S Kohl, H Löwenheim, R K Koenekoop, and H J Bolz
J Med Genet 2009; 46: 277-280. doi:10.1136/jmg.2008.059626
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M Failly, L Bartoloni, A Letourneau, A Munoz, E Falconnet, C Rossier, M M de Santi, F Santamaria, O Sacco, C D DeLozier-Blanchet, R Lazor, and J-L Blouin
J Med Genet 2009; 46: 281-286. doi:10.1136/jmg.2008.061176
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PostScript: Back

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
S Romano, F Bajolle, V Valayannopoulos, S Lyonnet, V Colomb, C de Baracé, P Vouhe, P Pouard, S Vuillaumier-Barrot, T Dupré, Y de Keyzer, D Sidi, N Seta, D Bonnet, and P de Lonlay
J Med Genet 2009; 46: 287-288. doi:10.1136/jmg.2008.057620
[Extract] [Full Text] [PDF] [Request Permissions]
To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' button. To see one abstract at a time, click its [Abstract] link.

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