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N M C Maas, G Van Buggenhout, F Hannes, B Thienpont, D Sanlaville, K Kok, A Midro, J Andrieux, B-M Anderlid, J Schoumans, R Hordijk, K Devriendt, J-P Fryns, and J R Vermeesch
J Med Genet 2008; 45: 71-80.
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Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052910
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K Osoegawa, G M Vessere, K H Utami, M A Mansilla, M K Johnson, B M Riley, J LHeureux, R Pfundt, J Staaf, W A van der Vliet, A C Lidral, E F P M Schoenmakers, A Borg, B C Schutte, E J Lammer, J C Murray, and P J de Jong
J Med Genet 2008; 45: 81-86.
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Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052191
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L Ocaka, C Zhao, J A Reed, N D Ebenezer, G Brice, T Morley, M Mehta, J ODowd, J L Weber, A J Hardcastle, and A H Child
J Med Genet 2008; 45: 87-92.
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Published Online First: 11 October 2007. doi:10.1136/jmg.2007.051896
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M M Hagleitner, A Lankester, P Maraschio, M Hultén, J P Fryns, C Schuetz, G Gimelli, E G Davies, A Gennery, B H Belohradsky, R de Groot, E J A Gerritsen, T Mattina, P J Howard, A Fasth, I Reisli, D Furthner, M A Slatter, A J Cant, G Cazzola, P J van Dijken, M van Deuren, J C de Greef, S M van der Maarel, and C M R Weemaes
J Med Genet 2008; 45: 93-99.
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Published Online First: 24 September 2007. doi:10.1136/jmg.2007.053397
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E J Marco, F E Abidi, J Bristow, W B Dean, P Cotter, R J Jeremy, C E Schwartz, and E H Sherr
J Med Genet 2008; 45: 100-105.
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Published Online First: 24 September 2007. doi:10.1136/jmg.2007.052324
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R H Scott, J Douglas, L Baskcomb, A O Nygren, J M Birch, T R Cole, V Cormier-Daire, D M Eastwood, S Garcia-Minaur, P Lupunzina, K Tatton-Brown, J Bliek, E R Maher, and N Rahman
J Med Genet 2008; 45: 106-113.
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Published Online First: 15 October 2007. doi:10.1136/jmg.2007.053207
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N Wolf, M Quaranta, N J Prescott, M Allen, R Smith, A D Burden, J Worthington, C E M Griffiths, C G Mathew, J N Barker, F Capon, and R C Trembath
J Med Genet 2008; 45: 114-116.
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Published Online First: 9 November 2007. doi:10.1136/jmg.2007.053595
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A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis
N de Leeuw, R Pfundt, D A Koolen, I Neefs, I Scheltinga, H Mieloo, E A Sistermans, W Nillesen, D F Smeets, B B A de Vries, and N V A M Knoers
J Med Genet 2008; 45: 122-124. doi:10.1136/jmg.2007.054049
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Human Gene Mutation Database: towards a comprehensive central mutation database
P D Stenson, E Ball, K Howells, A Phillips, M Mort, and D N Cooper
J Med Genet 2008; 45: 124-126. doi:10.1136/jmg.2007.055210
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Estimating risks of common complex diseases: familial and population risks
K Hemminki, A Försti, and J L Bermejo
J Med Genet 2008; 45: 126-127. doi:10.1136/jmg.2007.056325
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SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family
A Sun, L Xu, S Wang, K Wang, W Huang, Y Wang, Y Zou, and J Ge
J Med Genet 2008; 45: 127-128. doi:10.1136/jmg.2007.056333
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