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M Adams, U M Smith, C V Logan, C A Johnson |
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Recent advances in the molecular pathology, cell biology and genetics of ciliopathies |
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J. Med. Genet. 2008; 45: 257-267.
(In "Reviews")
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| 2. |
P de Bie, P Muller, C Wijmenga, L W J Klomp |
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Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes |
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J. Med. Genet. 2007; 44: 673-688.
(In "Reviews")
[Abstract]
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| 3. |
J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, A S Brooks, G Antinolo, L de Pontual, M Clement-Ziza, A Munnich, C Kashuk, K West, K K-Y Wong, S Lyonnet, A Chakravarti, P K-H Tam, I Ceccherini, R M W Hofstra, R Fernandez, for the Hirschsprung Disease Consortium |
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Hirschsprung disease, associated syndromes and genetics: a review |
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J. Med. Genet. 2008; 45: 1-14.
(In "Reviews")
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| 4. |
Kristiina Pulli, Kai Karma, Reijo Norio, Pertti Sistonen, Harald H Göring, Irma E Järvelä |
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Genome wide linkage scan for loci of musical aptitude in Finnish families:Evidence for a major locus at 4q22 |
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J. Med. Genet. 2008; doi: 10.1136/jmg.2007.056366.
(In "Letters to JMG")
[Abstract]
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| 5. |
S Abu-Amero, D Monk, J Frost, M Preece, P Stanier, G E Moore |
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The genetic aetiology of Silver–Russell syndrome |
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J. Med. Genet. 2008; 45: 193-199.
(In "Original articles")
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