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Volume 49; Issue 6
Main
Journal of Medical Genetics
Volume 49; Issue 6
Journal of Medical Genetics
Volume 49; Issue 6
1
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Martinez, F. J.
,
Lee, J. H.
,
Lee, J. E.
,
Blanco, S.
,
Nickerson, E.
,
Gabriel, S.
,
Frye, M.
,
Al-Gazali, L.
,
Gleeson, J. G.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 613 KB
Your tags:
english, 2012
2
Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas
Harinck, F.
,
Kluijt, I.
,
van der Stoep, N.
,
Oldenburg, R. A.
,
Wagner, A.
,
Aalfs, C. M.
,
Sijmons, R. H.
,
Poley, J.-W.
,
Kuipers, E. J.
,
Fockens, P.
,
van Os, T. A. M.
,
Bruno, M. J.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 107 KB
Your tags:
english, 2012
3
A human laterality disorder associated with recessive CCDC11 mutation
Perles, Z.
,
Cinnamon, Y.
,
Ta-Shma, A.
,
Shaag, A.
,
Einbinder, T.
,
Rein, A. J. J. T.
,
Elpeleg, O.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 624 KB
Your tags:
english, 2012
4
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
Santen, G. W. E.
,
Sun, Y.
,
Gijsbers, A. C. J.
,
Carre, A.
,
Holvoet, M.
,
Haeringen, A. v.
,
Lesnik Oberstein, S. A. J.
,
Tomoda, A.
,
Mabe, H.
,
Polak, M.
,
Devriendt, K.
,
Ruivenkamp, C. A. L.
,
Bijlsma, E. K
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 384 KB
Your tags:
english, 2012
5
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability
Thevenon, J.
,
Lopez, E.
,
Keren, B.
,
Heron, D.
,
Mignot, C.
,
Altuzarra, C.
,
Beri-Dexheimer, M.
,
Bonnet, C.
,
Magnin, E.
,
Burglen, L.
,
Minot, D.
,
Vigneron, J.
,
Morle, S.
,
Anheim, M.
,
Charles, P.
,
Brice, A
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 697 KB
Your tags:
english, 2012
6
OTX2 mutations contribute to the otocephaly-dysgnathia complex
Chassaing, N.
,
Sorrentino, S.
,
Davis, E. E.
,
Martin-Coignard, D.
,
Iacovelli, A.
,
Paznekas, W.
,
Webb, B. D.
,
Faye-Petersen, O.
,
Encha-Razavi, F.
,
Lequeux, L.
,
Vigouroux, A.
,
Yesilyurt, A.
,
Boyadjiev, S
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 605 KB
Your tags:
english, 2012
7
Clinical application of exome sequencing in undiagnosed genetic conditions
Need, A. C.
,
Shashi, V.
,
Hitomi, Y.
,
Schoch, K.
,
Shianna, K. V.
,
McDonald, M. T.
,
Meisler, M. H.
,
Goldstein, D. B.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 216 KB
Your tags:
english, 2012
8
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
Kousi, M.
,
Anttila, V.
,
Schulz, A.
,
Calafato, S.
,
Jakkula, E.
,
Riesch, E.
,
Myllykangas, L.
,
Kalimo, H.
,
Topcu, M.
,
Gokben, S.
,
Alehan, F.
,
Lemke, J. R.
,
Alber, M.
,
Palotie, A.
,
Kopra, O.
,
Lehesjoki, A
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 969 KB
Your tags:
english, 2012
9
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Blanchon, S.
,
Legendre, M.
,
Copin, B.
,
Duquesnoy, P.
,
Montantin, G.
,
Kott, E.
,
Dastot, F.
,
Jeanson, L.
,
Cachanado, M.
,
Rousseau, A.
,
Papon, J. F.
,
Beydon, N.
,
Brouard, J.
,
Crestani, B.
,
Deschildre, A.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 470 KB
Your tags:
english, 2012
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