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Volume 20; Issue 12
Main
Human Molecular Genetics
Volume 20; Issue 12
Human Molecular Genetics
Volume 20; Issue 12
1
Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count
Noordam, M. J.
,
Westerveld, G. H.
,
Hovingh, S. E.
,
van Daalen, S. K. M.
,
Korver, C. M.
,
van der Veen, F.
,
van Pelt, A. M. M.
,
Repping, S.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 175 KB
Your tags:
english, 2011
2
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
Fassio, A.
,
Patry, L.
,
Congia, S.
,
Onofri, F.
,
Piton, A.
,
Gauthier, J.
,
Pozzi, D.
,
Messa, M.
,
Defranchi, E.
,
Fadda, M.
,
Corradi, A.
,
Baldelli, P.
,
Lapointe, L.
,
St-Onge, J.
,
Meloche, C.
,
Mottron, L.
,
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 440 KB
Your tags:
english, 2011
3
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma
Fingert, J. H.
,
Robin, A. L.
,
Stone, J. L.
,
Roos, B. R.
,
Davis, L. K.
,
Scheetz, T. E.
,
Bennett, S. R.
,
Wassink, T. H.
,
Kwon, Y. H.
,
Alward, W. L. M.
,
Mullins, R. F.
,
Sheffield, V. C.
,
Stone, E. M.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 275 KB
Your tags:
english, 2011
4
Editorial Board
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 21 KB
Your tags:
english, 2011
5
Common genetic variants associated with open-angle glaucoma
Ramdas, W. D.
,
van Koolwijk, L. M. E.
,
Lemij, H. G.
,
Pasutto, F.
,
Cree, A. J.
,
Thorleifsson, G.
,
Janssen, S. F.
,
Jacoline, t. B.
,
Amin, N.
,
Rivadeneira, F.
,
Wolfs, R. C. W.
,
Walters, G. B.
,
Jonasson,
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 203 KB
Your tags:
english, 2011
6
Mitogen- and stress-activated protein kinase 1-induced neuroprotection in Huntington's disease: role on chromatin remodeling at the PGC-1-alpha promoter
Martin, E.
,
Betuing, S.
,
Pages, C.
,
Cambon, K.
,
Auregan, G.
,
Deglon, N.
,
Roze, E.
,
Caboche, J.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 531 KB
Your tags:
english, 2011
7
Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis
Reis, S. A.
,
Thompson, M. N.
,
Lee, J.-M.
,
Fossale, E.
,
Kim, H.-H.
,
Liao, J. K.
,
Moskowitz, M. A.
,
Shaw, S. Y.
,
Dong, L.
,
Haggarty, S. J.
,
MacDonald, M. E.
,
Seong, I. S.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 548 KB
Your tags:
english, 2011
8
An autosomal locus that controls chromosome-wide replication timing and mono-allelic expression
Stoffregen, E. P.
,
Donley, N.
,
Stauffer, D.
,
Smith, L.
,
Thayer, M. J.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 674 KB
Your tags:
english, 2011
9
Contents Page
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 33 KB
Your tags:
english, 2011
10
Cover Page
Journal:
Human Molecular Genetics
Year:
2011
File:
PDF, 409 KB
Your tags:
2011
11
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
Shen, Y.
,
Lee, H.-Y.
,
Rawson, J.
,
Ojha, S.
,
Babbitt, P.
,
Fu, Y.-H.
,
Ptacek, L. J.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 464 KB
Your tags:
english, 2011
12
Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A
Kumar, A.
,
Yamauchi, J.
,
Girgenrath, T.
,
Girgenrath, M.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 397 KB
Your tags:
english, 2011
13
Expression of tumor-promoting Cyr61 is regulated by hTRA2- 1 and acidosis
Hirschfeld, M.
,
Jaeger, M.
,
Buratti, E.
,
Stuani, C.
,
Grueneisen, J.
,
Gitsch, G.
,
Stickeler, E.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 385 KB
Your tags:
english, 2011
14
Improved risk prediction for Crohn's disease with a multi-locus approach
Kang, J.
,
Kugathasan, S.
,
Georges, M.
,
Zhao, H.
,
Cho, J. H.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 247 KB
Your tags:
english, 2011
15
Genome-wide meta-analysis for severe diabetic retinopathy
Grassi, M. A.
,
Tikhomirov, A.
,
Ramalingam, S.
,
Below, J. E.
,
Cox, N. J.
,
Nicolae, D. L.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 301 KB
Your tags:
english, 2011
16
Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma
Guerra, F.
,
Kurelac, I.
,
Cormio, A.
,
Zuntini, R.
,
Amato, L. B.
,
Ceccarelli, C.
,
Santini, D.
,
Cormio, G.
,
Fracasso, F.
,
Selvaggi, L.
,
Resta, L.
,
Attimonelli, M.
,
Gadaleta, M. N.
,
Gasparre, G.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 337 KB
Your tags:
english, 2011
17
The eczema risk variant on chromosome 11q13 (rs7927894) in the population-based ALSPAC cohort: a novel susceptibility factor for asthma and hay fever
Marenholz, I.
,
Bauerfeind, A.
,
Esparza-Gordillo, J.
,
Kerscher, T.
,
Granell, R.
,
Nickel, R.
,
Lau, S.
,
Henderson, J.
,
Lee, Y.-A.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 128 KB
Your tags:
english, 2011
18
ApoE isoform-specific regulation of regeneration in the peripheral nervous system
Comley, L. H.
,
Fuller, H. R.
,
Wishart, T. M.
,
Mutsaers, C. A.
,
Thomson, D.
,
Wright, A. K.
,
Ribchester, R. R.
,
Morris, G. E.
,
Parson, S. H.
,
Horsburgh, K.
,
Gillingwater, T. H.
Journal:
Human Molecular Genetics
Year:
2011
Language:
english
File:
PDF, 384 KB
Your tags:
english, 2011
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