Works matching IS 14739542 AND DT 2012 AND VI 6 AND IP 1

Results: 20

A new era in the discovery of de novomutations underlying human genetic disease.

Published in:

2012

By:

Ku, Chee-Seng;
Vasiliou, Vasilis;
Cooper, David N

Publication type:

Editorial

Association of genome variations in the reninangiotensin system with physical performance.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-24

By:

Sgourou, Argyro;
Fotopoulos, Vassilis;
Kontos, Vassilis;
Patrinos, George P;
Papachatzopoulou, Adamantia

Publication type:

Article

An emerging role for microRNAs in NF1 tumorigenesis.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-23

By:

Sedani, Ashni;
Cooper, David N;
Upadhyaya, Meena

Publication type:

Article

6th Golden Helix Pharmacogenomics Day: pharmacogenomics and individualized therapy.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-19

By:

Stojiljkovic, Maja;
Fazlagic, Amira;
Dokmanovic-Krivokapic, Lidija;
Nikcevic, Gordana;
Patrinos, George P;
Pavlovic, Sonja;
Zukic, Branka

Publication type:

Article

Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-22

By:

Elhawy, Eman;
Kamthan, Gautam;
Dong, Cecilia Q.;
Danias, John

Publication type:

Article

Collaborative software for traditional and translational research.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-21

By:

Berman, Ari E.;
Barnett, William K.;
Mooney, Sean D.

Publication type:

Article

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-18

By:

Thomas, Laura;
Mautner, Victor-Felix;
Cooper, David N.;
Upadhyaya, Meena

Publication type:

Article

Usability survey of biomedical question answering systems.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-17

By:

Bauer, Michael A.;
Berleant, Daniel

Publication type:

Article

Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-14

By:

Sousounis, Konstantinos;
Tsonis, Panagiotis A.

Publication type:

Article

Identification of functional DNA variants in the constitutive promoter region of MDM2.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-15

By:

Lalonde, Marie-Eve;
Ouimet, Manon;
Larivière, Mathieu;
Kritikou, Ekaterini A.;
Sinnett, Daniel

Publication type:

Article

Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-13

By:

Liu, Melissa M.;
Chi-Chao Chan;
Jingsheng Tuo

Publication type:

Article

‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-11

By:

Clarke, Angus J.;
Cooper, David N.;
Krawczak, Michael;
Tyler-Smith, Chris;
Wallace, Helen M.;
Wilkie, Andrew O. M.;
Raymond, Frances Lucy;
Chadwick, Ruth;
Craddock, Nick;
John, Ros;
Gallacher, John;
Chiano, Mathias

Publication type:

Article

CXCL5 polymorphisms are associated with variable blood pressure in cardiovascular disease-free adults.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-9

By:

Beitelshees, Amber L.;
Aquilante, Christina L.;
Allayee, Hooman;
Langaee, Taimour Y.;
Welder, Gregory J.;
Schofield, Richard S.;
Zineh, Issam

Publication type:

Article

GWIDD: a comprehensive resource for genome-wide structural modeling of protein-protein interactions.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-7

By:

Kundrotas, Petras J.;
Zhu, Zhengwei;
Vakser, Ilya A.

Publication type:

Article

The human protein disulfide isomerase gene family.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-6

By:

Galligan, James J.;
Petersen, Dennis R.

Publication type:

Article

SNPTrack<sup>TM</sup> : an integrated bioinformatics system for genetic association studies.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-5

By:

Xu, Joshua;
Kelly, Reagan;
Zhou, Guangxu;
Turner, Steven A.;
Don Ding;
Harris, Stephen C.;
Huixiao Hong;
Hong Fang;
Weida Tong

Publication type:

Article

Gene family matters: expanding the HGNC resource.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-4

By:

Daugherty, Louise C.;
Seal, Ruth L.;
Wright, Mathew W.;
Bruford, Elspeth A.

Publication type:

Article

Mitochondrial and nuclear genomics and the emergence of personalized medicine.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-3

By:

Parr, Ryan L.;
Martin, Luis H.

Publication type:

Article

Estimating ancestral proportions in a multi-ethnic US sample: implications for studies of admixed populations.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-2

By:

Levran, Orna;
Awolesi, Olaoluwakitan;
Shen, Pei-Hong;
Adelson, Miriam;
Kreek, Mary Jeanne

Publication type:

Article

A new home for Human Genomics.

Published in:

Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-1

By:

Vasiliou, Vasilis;
Nebert, Daniel W.

Publication type:

Article