Search Result "Rare Disease Consortium for Autosomal Loci"


Editorial [Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA)]

Journal: Current Pharmacogenomics and Personalized Medicine
Volume: 9 Issue: 4 Year: 2011 Page: 243-251
Author(s): Vural Ozdemir, David S. Rosenblatt, Louise Warnich, Sanjeeva Srivastava, Ghazi O. Tadmouri, Ramy K. Aziz, Panga Jaipal Reddy, Aresha Manamperi, Edward S. Dove, Yann Joly, Man H. Zawati, Candan Hizel, Yasemin Yazan, Leela John, Emmanuelle Vaast, Adam S. Ptolemy, Samer A. Faraj, Eugene Kolker, Richard G.H. Cotton

Review Article open access plus

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment

Journal: Current Medicinal Chemistry
Volume: 25 Issue: 3 Year: 2018 Page: 404-432
Author(s): Ana Fernandez-Marmiesse,Sofia Gouveia,Maria L. Couce

Genetic Testing for Rare Genetic Disorders

Ebook: Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics
Volume: 1 Year: 2022
Author(s):
Doi: 10.2174/9789815079517122010005

Use of Cell Lines in the Investigation of Pharmacogenetic Loci

Journal: Current Pharmaceutical Design
Volume: 15 Issue: 3 Year: 2009 Page: 3782-3795
Author(s): Wei Zhang, M. Eileen Dolan

Rare Genetic Diseases with Human Lean and/or Starvation Phenotype Open New Avenues for Obesity and Type II Diabetes Treatment

Journal: Current Pharmaceutical Biotechnology
Volume: 14 Issue: 13 Year: 2013 Page: 1093-1098
Author(s): Itzik Harosh

Commonalities and Differences Between Crohns Disease and Ulcerative Colitis: The Genetic Clues to their Interpretation

Journal: Inflammation & Allergy - Drug Targets (Discontinued)
Volume: 10 Issue: 6 Year: 2011 Page: 447-454
Author(s): Giovanni C. Actis, Rinaldo Pellicano, Sonia Tarallo, Floriano Rosina

Genomic and Molecular Characterization of Alzheimer Disease

Journal: Current Psychiatry Reviews
Volume: 6 Issue: 2 Year: 2010 Page: 104-113
Author(s): Tih-Shih Lee, Sze-Ming Chua, Philip Ly, Weihong Song

Genome Study of Kidney Disease in the Age of Post Genome-Sequencing

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 8 Issue: 3 Year: 2008 Page: 173-183
Author(s): Kent Doi, Koji Okamoto, Katsushi Tokunaga, Toshiro Fujita, Eisei Noiri

Targeting the Progression of Parkinsons Disease

Journal: Current Neuropharmacology
Volume: 7 Issue: 1 Year: 2009 Page: 9-36
Author(s): J. L. George, S. Mok, D. Moses, S. Wilkins, A. I. Bush, R. A. Cherny, D. I. Finkelstein

Genetics and Ulcerative Colitis: What are the Clinical Implications?

Journal: Current Drug Targets
Volume: 12 Issue: 1 Year: 2011 Page: 1383-1389
Author(s): Anna Latiano, Vito Annese

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