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Volume 19; Issue 2
Main
Human Molecular Genetics
Volume 19; Issue 2
Human Molecular Genetics
Volume 19; Issue 2
1
Cover Page
Journal:
Human Molecular Genetics
Year:
2010
File:
PDF, 723 KB
Your tags:
2010
2
Fibroblast phenotype in male carriers of FMR1 premutation alleles
Garcia-Arocena, D.
,
Yang, J. E.
,
Brouwer, J. R.
,
Tassone, F.
,
Iwahashi, C.
,
Berry-Kravis, E. M.
,
Goetz, C. G.
,
Sumis, A. M.
,
Zhou, L.
,
Nguyen, D. V.
,
Campos, L.
,
Howell, E.
,
Ludwig, A.
,
Greco, C.
,
Wil
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 311 KB
Your tags:
english, 2010
3
Subscription Page
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 38 KB
Your tags:
english, 2010
4
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex
Chang, W.
,
Barnes, A. M.
,
Cabral, W. A.
,
Bodurtha, J. N.
,
Marini, J. C.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 454 KB
Your tags:
english, 2010
5
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies
Ye, M.
,
Berry-Wynne, K. M.
,
Asai-Coakwell, M.
,
Sundaresan, P.
,
Footz, T.
,
French, C. R.
,
Abitbol, M.
,
Fleisch, V. C.
,
Corbett, N.
,
Allison, W. T.
,
Drummond, G.
,
Walter, M. A.
,
Underhill, T. M.
,
Waskie
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 583 KB
Your tags:
english, 2010
6
Editorial Board
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 27 KB
Your tags:
english, 2010
7
Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins
del Castillo, F. J.
,
Cohen-Salmon, M.
,
Charollais, A.
,
Caille, D.
,
Lampe, P. D.
,
Chavrier, P.
,
Meda, P.
,
Petit, C.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 643 KB
Your tags:
english, 2010
8
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an N -dimethyl lysine demethylase
Loenarz, C.
,
Ge, W.
,
Coleman, M. L.
,
Rose, N. R.
,
Cooper, C. D.O.
,
Klose, R. J.
,
Ratcliffe, P. J.
,
Schofield, C. J.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 200 KB
Your tags:
english, 2010
9
Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells
D'Aurelio, M.
,
Vives-Bauza, C.
,
Davidson, M.M.
,
Manfredi, G.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 529 KB
Your tags:
english, 2010
10
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development
Betts-Henderson, J.
,
Bartesaghi, S.
,
Crosier, M.
,
Lindsay, S.
,
Chen, H.-L.
,
Salomoni, P.
,
Gottlob, I.
,
Nicotera, P.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 458 KB
Your tags:
english, 2010
11
Proteotoxic stress increases nuclear localization of ataxin-3
Reina, C. P.
,
Zhong, X.
,
Pittman, R. N.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 595 KB
Your tags:
english, 2010
12
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
Cunningham, D.
,
Talabere, T.
,
Bir, N.
,
Kennedy, M.
,
McBride, K. L.
,
Herman, G. E.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 354 KB
Your tags:
english, 2010
13
Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms
van der Harst, P.
,
Bakker, S. J.L.
,
de Boer, R. A.
,
Wolffenbuttel, B. H.R.
,
Johnson, T.
,
Caulfield, M. J.
,
Navis, G.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 197 KB
Your tags:
english, 2010
14
Phosphorylation of parkin by Parkinson disease-linked kinase PINK1 activates parkin E3 ligase function and NF- B signaling
Sha, D.
,
Chin, L.-S.
,
Li, L.
Journal:
Human Molecular Genetics
Year:
2010
Language:
english
File:
PDF, 482 KB
Your tags:
english, 2010
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