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Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. NP, doi. 10.1093/hmg/ddt093
Publication type:
Article
Developmental abnormalities in mouse embryos lacking the HDL receptor SR-BI.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1086, doi. 10.1093/hmg/dds510
By:
- Santander, Nicolás Guillermo;
- Contreras-Duarte, Susana;
- Awad, María Fernanda;
- Lizama, Carlos;
- Passalacqua, Isabella;
- Rigotti, Attilio;
- Busso, Dolores
Publication type:
Article
Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1180, doi. 10.1093/hmg/dds525
By:
- Iliff, Adam J.;
- Renoux, Abigail J.;
- Krans, Amy;
- Usdin, Karen;
- Sutton, Michael A.;
- Todd, Peter K.
Publication type:
Article
Cover Page.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. NP, doi. 10.1093/hmg/ddt091
Publication type:
Article
Evidence of associations of APOBEC3B gene deletion with susceptibility to persistent HBV infection and hepatocellular carcinoma.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1262, doi. 10.1093/hmg/dds513
By:
- Zhang, Tongwen;
- Cai, Jianqiang;
- Chang, Jiang;
- Yu, Dianke;
- Wu, Chen;
- Yan, Tao;
- Zhai, Kan;
- Bi, Xinyu;
- Zhao, Hong;
- Xu, Jian;
- Tan, Wen;
- Qu, Chunfeng;
- Lin, Dongxin
Publication type:
Article
Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1097, doi. 10.1093/hmg/dds515
By:
- Bassuk, Alexander G.;
- Muthuswamy, Lakshmi B.;
- Boland, Riley;
- Smith, Tiffany L.;
- Hulstrand, Alissa M.;
- Northrup, Hope;
- Hakeman, Matthew;
- Dierdorff, Jason M.;
- Yung, Christina K.;
- Long, Abby;
- Brouillette, Rachel B.;
- Au, Kit Sing;
- Gurnett, Christina;
- Houston, Douglas W.;
- Cornell, Robert A.;
- Manak, J. Robert
Publication type:
Article
GTPase activity regulates kinase activity and cellular phenotypes of Parkinson's disease-associated LRRK2.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1140, doi. 10.1093/hmg/dds522
By:
- Biosa, Alice;
- Trancikova, Alzbeta;
- Civiero, Laura;
- Glauser, Liliane;
- Bubacco, Luigi;
- Greggio, Elisa;
- Moore, Darren J.
Publication type:
Article
Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1218, doi. 10.1093/hmg/dds529
By:
- Piccoli, Claudia;
- Izzo, Antonella;
- Scrima, Rosella;
- Bonfiglio, Ferdinando;
- Manco, Rosanna;
- Negri, Rosa;
- Quarato, Giovanni;
- Cela, Olga;
- Ripoli, Maria;
- Prisco, Marina;
- Gentile, Flaviana;
- Calì, Gaetano;
- Pinton, Paolo;
- Conti, Anna;
- Nitsch, Lucio;
- Capitanio, Nazzareno
Publication type:
Article
Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1206, doi. 10.1093/hmg/dds528
By:
- Barlow, Amanda J.;
- Dixon, Jill;
- Dixon, Michael;
- Trainor, Paul A.
Publication type:
Article
Whole-genome detection of disease-associated deletions or excess homozygosity in a case–control study of rheumatoid arthritis.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1249
By:
- Wu, Chih-Chieh;
- Shete, Sanjay;
- Jo, Eun-Ji;
- Xu, Yaji;
- Lu, Emily Y.;
- Chen, Wei V.;
- Amos, Christopher I.
Publication type:
Article
Alleviation of seipinopathy-related ER stress by triglyceride storage.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1157, doi. 10.1093/hmg/dds523
By:
- Hölttä-Vuori, Maarit;
- Salo, Veijo T.;
- Ohsaki, Yuki;
- Suster, Maximiliano L.;
- Ikonen, Elina
Publication type:
Article
Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1233, doi. 10.1093/hmg/dds530
By:
- García-Corzo, Laura;
- Luna-Sánchez, Marta;
- Doerrier, Carolina;
- García, José A.;
- Guarás, Adela;
- Acín-Pérez, Rebeca;
- Bullejos-Peregrín, Javier;
- López, Ana;
- Escames, Germaine;
- Enríquez, José A.;
- Acuña-Castroviejo, Darío;
- López, Luis C.
Publication type:
Article
Elevated NADPH oxidase activity contributes to oxidative stress and cell death in Huntington's disease.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1112, doi. 10.1093/hmg/dds516
By:
- Valencia, Antonio;
- Sapp, Ellen;
- Kimm, Jeffrey S.;
- McClory, Hollis;
- Reeves, Patrick B.;
- Alexander, Jonathan;
- Ansong, Kwadwo A.;
- Masso, Nicholas;
- Frosch, Matthew P.;
- Kegel, Kimberly B.;
- Li, Xueyi;
- DiFiglia, Marian
Publication type:
Article
RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1193, doi. 10.1093/hmg/dds526
By:
- Daigle, J. Gavin;
- Lanson, Nicholas A.;
- Smith, Rebecca B.;
- Casci, Ian;
- Maltare, Astha;
- Monaghan, John;
- Nichols, Charles D.;
- Kryndushkin, Dmitri;
- Shewmaker, Frank;
- Pandey, Udai Bhan
Publication type:
Article
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1061, doi. 10.1093/hmg/dds508
By:
- Orioli, Donata;
- Compe, Emmanuel;
- Nardo, Tiziana;
- Mura, Manuela;
- Giraudon, Christophe;
- Botta, Elena;
- Arrigoni, Laura;
- Peverali, Fiorenzo A.;
- Egly, Jean Marc;
- Stefanini, Miria
Publication type:
Article
mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1167, doi. 10.1093/hmg/dds524
By:
- Ching, James K.;
- Elizabeth, Sarita V.;
- Ju, Jeong-Sun;
- Lusk, Caleb;
- Pittman, Sara K.;
- Weihl, Conrad C.
Publication type:
Article
Mitochondrial antibiograms in personalized medicine.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1132, doi. 10.1093/hmg/dds517
By:
- Pacheu-Grau, David;
- Gómez-Durán, Aurora;
- Iglesias, Eldris;
- López-Gallardo, Ester;
- Montoya, Julio;
- Ruiz-Pesini, Eduardo
Publication type:
Article
Editorial Board.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. NP, doi. 10.1093/hmg/ddt092
Publication type:
Article
Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. 1074, doi. 10.1093/hmg/dds509
By:
- Sohl, Christal D.;
- Kasiviswanathan, Rajesh;
- Copeland, William C.;
- Anderson, Karen S.
Publication type:
Article
Contents Page.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 6, p. NP, doi. 10.1093/hmg/ddt090
Publication type:
Article

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