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Volume 21; Issue 7
Main
Human Molecular Genetics
Volume 21; Issue 7
Human Molecular Genetics
Volume 21; Issue 7
1
A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese
Kiyotani, K.
,
Mushiroda, T.
,
Tsunoda, T.
,
Morizono, T.
,
Hosono, N.
,
Kubo, M.
,
Tanigawara, Y.
,
Imamura, C. K.
,
Flockhart, D. A.
,
Aki, F.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 315 KB
Your tags:
english, 2012
2
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression
Shoubridge, C.
,
Tan, M. H.
,
Seiboth, G.
,
Gecz, J.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 331 KB
Your tags:
english, 2012
3
Cut-like homeobox 1 and nuclear factor I/B mediate ENGRAILED2 autism spectrum disorder-associated haplotype function
Choi, J.
,
Ababon, M. R.
,
Matteson, P. G.
,
Millonig, J. H.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 403 KB
Your tags:
english, 2012
4
A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population
Tan, A.
,
Sun, J.
,
Xia, N.
,
Qin, X.
,
Hu, Y.
,
Zhang, S.
,
Tao, S.
,
Gao, Y.
,
Yang, X.
,
Zhang, H.
,
Kim, S.-T.
,
Peng, T.
,
Lin, X.
,
Li, L.
,
Mo, L.
,
Liang, Z.
,
Shi, D.
,
Huang, Z.
,
Huang, X.
,
Liu, M.
,
Ding, Q.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 144 KB
Your tags:
english, 2012
5
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Soemedi, R.
,
Topf, A.
,
Wilson, I. J.
,
Darlay, R.
,
Rahman, T.
,
Glen, E.
,
Hall, D.
,
Huang, N.
,
Bentham, J.
,
Bhattacharya, S.
,
Cosgrove, C.
,
Brook, J. D.
,
Granados-Riveron, J.
,
Setchfield, K.
,
Bu'Lock, F
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 276 KB
Your tags:
english, 2012
6
Microbiomic subprofiles and MDR1 promoter methylation in head and neck squamous cell carcinoma
Bebek, G.
,
Bennett, K. L.
,
Funchain, P.
,
Campbell, R.
,
Seth, R.
,
Scharpf, J.
,
Burkey, B.
,
Eng, C.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 462 KB
Your tags:
english, 2012
7
GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease
Roy, E.
,
Bruyere, J.
,
Flamant, P.
,
Bigou, S.
,
Ausseil, J.
,
Vitry, S.
,
Heard, J. M.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 773 KB
Your tags:
english, 2012
8
Cover Page
Journal:
Human Molecular Genetics
Year:
2012
File:
PDF, 480 KB
Your tags:
2012
9
An eQTL-based method identifies CTTN and ZMAT3 as pemetrexed susceptibility markers
Wen, Y.
,
Gamazon, E. R.
,
Bleibel, W. K.
,
Wing, C.
,
Mi, S.
,
McIlwee, B. E.
,
Delaney, S. M.
,
Duan, S.
,
Im, H. K.
,
Dolan, M. E.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 395 KB
Your tags:
english, 2012
10
Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity
DePaoli-Roach, A. A.
,
Segvich, D. M.
,
Meyer, C. M.
,
Rahimi, Y.
,
Worby, C. A.
,
Gentry, M. S.
,
Roach, P. J.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 269 KB
Your tags:
english, 2012
11
Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density
Xiao, S.-M.
,
Kung, A. W. C.
,
Gao, Y.
,
Lau, K.-S.
,
Ma, A.
,
Zhang, Z.-L.
,
Liu, J.-M.
,
Xia, W.
,
He, J.-W.
,
Zhao, L.
,
Nie, M.
,
Fu, W.-Z.
,
Zhang, M.-J.
,
Sun, J.
,
Kwan, J. S. H.
,
Tso, G. H. W.
,
Dai, Z.-J.
,
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 270 KB
Your tags:
english, 2012
12
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
Porensky, P. N.
,
Mitrpant, C.
,
McGovern, V. L.
,
Bevan, A. K.
,
Foust, K. D.
,
Kaspar, B. K.
,
Wilton, S. D.
,
Burghes, A. H. M.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 562 KB
Your tags:
english, 2012
13
Subscription Page
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 31 KB
Your tags:
english, 2012
14
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency
Baresova, V.
,
Skopova, V.
,
Sikora, J.
,
Patterson, D.
,
Sovova, J.
,
Zikanova, M.
,
Kmoch, S.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 425 KB
Your tags:
english, 2012
15
1D chain increases 7 1 integrin and laminin and protects against sarcolemmal damage in mdx mice
Liu, J.
,
Milner, D. J.
,
Boppart, M. D.
,
Ross, R. S.
,
Kaufman, S. J.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 562 KB
Your tags:
english, 2012
16
Polyunsaturated fatty acid levels in blood during pregnancy, at birth and at 7 years: their associations with two common FADS2 polymorphisms
Steer, C. D.
,
Hibbeln, J. R.
,
Golding, J.
,
Davey Smith, G.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 240 KB
Your tags:
english, 2012
17
Contents Page
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 34 KB
Your tags:
english, 2012
18
Editorial Board
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 21 KB
Your tags:
english, 2012
19
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle
Dialynas, G.
,
Flannery, K. M.
,
Zirbel, L. N.
,
Nagy, P. L.
,
Mathews, K. D.
,
Moore, S. A.
,
Wallrath, L. L.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 924 KB
Your tags:
english, 2012
20
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
Narisawa, A.
,
Komatsuzaki, S.
,
Kikuchi, A.
,
Niihori, T.
,
Aoki, Y.
,
Fujiwara, K.
,
Tanemura, M.
,
Hata, A.
,
Suzuki, Y.
,
Relton, C. L.
,
Grinham, J.
,
Leung, K.-Y.
,
Partridge, D.
,
Robinson, A.
,
Stone, V.
,
G
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 265 KB
Your tags:
english, 2012
21
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy
Criado, O.
,
Aguado, C.
,
Gayarre, J.
,
Duran-Trio, L.
,
Garcia-Cabrero, A. M.
,
Vernia, S.
,
San Millan, B.
,
Heredia, M.
,
Roma-Mateo, C.
,
Mouron, S.
,
Juana-Lopez, L.
,
Dominguez, M.
,
Navarro, C.
,
Serratosa,
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 705 KB
Your tags:
english, 2012
22
HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis
Shan, Y.
,
Cortopassi, G.
Journal:
Human Molecular Genetics
Year:
2012
Language:
english
File:
PDF, 677 KB
Your tags:
english, 2012
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