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Volume 49; Issue 3
Main
Journal of Medical Genetics
Volume 49; Issue 3
Journal of Medical Genetics
Volume 49; Issue 3
1
Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification
Parsons, M. T.
,
Buchanan, D. D.
,
Thompson, B.
,
Young, J. P.
,
Spurdle, A. B.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 154 KB
Your tags:
english, 2012
2
Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease
Friso, S.
,
Lotto, V.
,
Choi, S.-W.
,
Girelli, D.
,
Pinotti, M.
,
Guarini, P.
,
Udali, S.
,
Pattini, P.
,
Pizzolo, F.
,
Martinelli, N.
,
Corrocher, R.
,
Bernardi, F.
,
Olivieri, O.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 383 KB
Your tags:
english, 2012
3
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families
Ghiorzo, P.
,
Fornarini, G.
,
Sciallero, S.
,
Battistuzzi, L.
,
Belli, F.
,
Bernard, L.
,
Bonelli, L.
,
Borgonovo, G.
,
Bruno, W.
,
De Cian, F.
,
DeCensi, A.
,
Filauro, M.
,
Faravelli, F.
,
Gozza, A.
,
Gargiulo, S.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 129 KB
Your tags:
english, 2012
4
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
Willemsen, M. H.
,
Vissers, L. E. L.
,
Willemsen, M. A. A. P.
,
van Bon, B. W. M.
,
Kroes, T.
,
de Ligt, J.
,
de Vries, B. B.
,
Schoots, J.
,
Lugtenberg, D.
,
Hamel, B. C. J.
,
van Bokhoven, H.
,
Brunner, H. G.
,
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 467 KB
Your tags:
english, 2012
5
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease
Hughes, D. A.
,
Malmenas, M.
,
Deegan, P. B.
,
Elliott, P. M.
,
Ginsberg, L.
,
Hajioff, D.
,
Ioannidis, A. S.
,
Orteu, C. H.
,
Ramaswami, U.
,
West, M.
,
Pastores, G. M.
,
Jenkinson, C.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 292 KB
Your tags:
english, 2012
6
Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles
Dixon, P. H.
,
Trongwongsa, P.
,
Abu-Hayyah, S.
,
Ng, S. H.
,
Akbar, S. A.
,
Khawaja, N. P.
,
Seckl, M. J.
,
Savage, P. M.
,
Fisher, R. A.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 109 KB
Your tags:
english, 2012
7
Correction
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 52 KB
Your tags:
english, 2012
8
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling
Scionti, I.
,
Fabbri, G.
,
Fiorillo, C.
,
Ricci, G.
,
Greco, F.
,
D'Amico, R.
,
Termanini, A.
,
Vercelli, L.
,
Tomelleri, G.
,
Cao, M.
,
Santoro, L.
,
Percesepe, A.
,
Tupler, R.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 521 KB
Your tags:
english, 2012
9
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency
Salviati, L.
,
Trevisson, E.
,
Rodriguez Hernandez, M. A.
,
Casarin, A.
,
Pertegato, V.
,
Doimo, M.
,
Cassina, M.
,
Agosto, C.
,
Desbats, M. A.
,
Sartori, G.
,
Sacconi, S.
,
Memo, L.
,
Zuffardi, O.
,
Artuch, R.
,
Q
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 401 KB
Your tags:
english, 2012
10
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
Shamseldin, H. E.
,
Elfaki, M.
,
Alkuraya, F. S.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 349 KB
Your tags:
english, 2012
11
Single nucleotide polymorphisms in the NOS2 and NOS3 genes are associated with exhaled nitric oxide
Dahgam, S.
,
Nyberg, F.
,
Modig, L.
,
Naluai, A. T.
,
Olin, A.-C.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 396 KB
Your tags:
english, 2012
12
Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24
Jones, A. M.
,
Howarth, K. M.
,
Martin, L.
,
Gorman, M.
,
Mihai, R.
,
Moss, L.
,
Auton, A.
,
Lemon, C.
,
Mehanna, H.
,
Mohan, H.
,
Clarke, S. E. M.
,
Wadsley, J.
,
Macias, E.
,
Coatesworth, A.
,
Beasley, M.
,
Roques
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 133 KB
Your tags:
english, 2012
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