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February 2008    (Volume 45, Number 2).   [Index by author]
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To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

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R A George, T D Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, M A Wouters, and R G H Cotton
J Med Genet 2008; 45: 65-70. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions] This article has been Unlocked  
Published Online First: 24 September 2007. doi:10.1136/jmg.2007.052639

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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. [Abstract] [Full text] [PDF] [Request Permissions]  
Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052910

K Osoegawa, G M Vessere, K H Utami, M A Mansilla, M K Johnson, B M Riley, J L’Heureux, 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. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]  
Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052191

L Ocaka, C Zhao, J A Reed, N D Ebenezer, G Brice, T Morley, M Mehta, J O’Dowd, J L Weber, A J Hardcastle, and A H Child
J Med Genet 2008; 45: 87-92. [Abstract] [Full text] [web only figures] [PDF] [Request Permissions]  
Published Online First: 11 October 2007. doi:10.1136/jmg.2007.051896

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. [Abstract] [Full text] [PDF] [Request Permissions]  
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. [Abstract] [Full text] [PDF] [Request Permissions]  
Published Online First: 24 September 2007. doi:10.1136/jmg.2007.052324

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. [Abstract] [Full text] [web only table] [PDF] [Request Permissions]  
Published Online First: 15 October 2007. doi:10.1136/jmg.2007.053207

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. [Abstract] [Full text] [PDF] [Request Permissions]  
Published Online First: 9 November 2007. doi:10.1136/jmg.2007.053595

Back Mutation reports

W Rossmanith, M Freilinger, J Roka, T Raffelsberger, K Moser-Thier, D Prayer, G Bernert, and R E Bittner
J Med Genet 2008; 45: 117-121. doi:10.1136/jmg.2007.052076 [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]  

Back PostScript
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 [Extract] [Full text] [PDF] [Request Permissions]  
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 [Extract] [Full text] [PDF] [Request Permissions]  
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 [Extract] [Full text] [PDF] [Request Permissions]  
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 [Extract] [Full text] [PDF] [Request Permissions]  

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


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