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Volume 43; Issue 12
Main
Journal of Medical Genetics
Volume 43; Issue 12
Journal of Medical Genetics
Volume 43; Issue 12
1
The role of genetic variants of matrix metalloproteinases in coronary and carotid atherosclerosis
Abilleira, S.
,
Bevan, S.
,
Markus, H. S
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 240 KB
Your tags:
english, 2006
2
MDM2 SNP309 accelerates colorectal tumour formation in women
Bond, G. L
,
Menin, C.
,
Bertorelle, R.
,
Alhopuro, P.
,
Aaltonen, L. A
,
Levine, A. J
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 131 KB
Your tags:
english, 2006
3
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk
Humphries, S E
,
Whittall, R A
,
Hubbart, C S
,
Maplebeck, S
,
Cooper, J A
,
Soutar, A K
,
Naoumova, R
,
Thompson, G R
,
Seed, M
,
Durrington, P N
,
Miller, J P
,
Betteridge, D J B
,
Neil, H A W
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 369 KB
Your tags:
english, 2006
4
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
Santoro, A
,
Cannella, S
,
Bossi, G
,
Gallo, F
,
Trizzino, A
,
Pende, D
,
Dieli, F
,
Bruno, G
,
Stinchcombe, J C
,
Micalizzi, C
,
De Fusco, C
,
Danesino, C
,
Moretta, L
,
Notarangelo, L D
,
Griffiths, G M
,
Arico, M
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 847 KB
Your tags:
english, 2006
5
AMP-kinase 2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol in normal women
Spencer-Jones, N J
,
Ge, D
,
Snieder, H
,
Perks, U
,
Swaminathan, R
,
Spector, T D
,
Carter, N D
,
O'Dell, S D
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 308 KB
Your tags:
english, 2006
6
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family
Lupi, A
,
Rossi, A
,
Campari, E
,
Pecora, F
,
Lund, A M
,
Elcioglu, N H
,
Gultepe, M
,
Di Rocco, M
,
Cetta, G
,
Forlino, A
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 1.19 MB
Your tags:
english, 2006
7
New Alzheimer's disease locus on chromosome 8
Giedraitis, V
,
Hedlund, M
,
Skoglund, L
,
Blom, E
,
Ingvast, S
,
Brundin, R
,
Lannfelt, L
,
Glaser, A
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 381 KB
Your tags:
english, 2006
8
Clinical features in a family with an R460H mutation in transforming growth factor receptor 2 gene
Law, C
,
Bunyan, D
,
Castle, B
,
Day, L
,
Simpson, I
,
Westwood, G
,
Keeton, B
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 741 KB
Your tags:
english, 2006
9
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients
Petel-Galil, Y
,
Benteer, B
,
Galil, Y P
,
Zeev, B B
,
Greenbaum, I
,
Vecsler, M
,
Goldman, B
,
Lohi, H
,
Minassian, B A
,
Gak, E
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 243 KB
Your tags:
english, 2006
10
Three single-nucleotide polymorphisms in LPA account for most of the increase in lipoprotein(a) level elevation in African Americans compared with European Americans
Chretien, J-P
,
Coresh, J
,
Berthier-Schaad, Y
,
Kao, W H L
,
Fink, N E
,
Klag, M J
,
Marcovina, S M
,
Giaculli, F
,
Smith, M W
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 499 KB
Your tags:
english, 2006
11
The epigenetic imprinting defect of patients with Beckwith--Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
Rossignol, S
,
Steunou, V
,
Chalas, C
,
Kerjean, A
,
Rigolet, M
,
Viegas-Pequignot, E
,
Jouannet, P
,
Le Bouc, Y
,
Gicquel, C
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 507 KB
Your tags:
english, 2006
12
A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family
Yang, Z
,
Kitsos, G
,
Tong, Z
,
Payne, M
,
Gorezis, S
,
Psilas, K
,
Grigoriadou, M
,
Zhao, Y
,
Kamaya, S
,
Aperis, G
,
Petersen, M B
,
Zhang, K
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 600 KB
Your tags:
english, 2006
13
Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene
Tran, V. K.
,
Takeshima, Y.
,
Zhang, Z.
,
Yagi, M.
,
Nishiyama, A.
,
Habara, Y.
,
Matsuo, M.
Journal:
Journal of Medical Genetics
Year:
2006
Language:
english
File:
PDF, 448 KB
Your tags:
english, 2006
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