An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information.
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Molecular Case Studies, a Journal of Precision Medicine | molecularcasestudies.cshlp.org Reviews
https://molecularcasestudies.cshlp.org
An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information.
molecularcasestudies.cshlp.org
Table of Contents — March 2017, 3 (2)
http://molecularcasestudies.cshlp.org/content/current
Skip to main page content. March 2017; 3 (2). Integrating functional genomics to accelerate mechanistic personalized medicine. Jeffrey W. Tyner. Cold Spring Harb Mol Case Stud. Mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Sarah U. Morton. Sanjay P. Prabhu. Hart G.W. Lidov. Catherine A. Brownstein. Matthew N. Bainbridge. Alan H. Beggs. Sara O. Vargas. Pankaj B. Agrawal. Cold Spring Harb Mol Case Stud. January 10, 2017. Ronak M. Patel. James T. Lu.
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide
http://molecularcasestudies.cshlp.org/content/3/1/a001339.full
Skip to main page content. Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide. Anil K. Agarwal. Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA;. Molecular and Cellular Imaging, Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA;. And zinc metalloproteinase (.
Cold Spring Harbor Molecular Case Studies -- Author Information
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Skip to main page content. Cold Spring Harbor Molecular Case Studies. Guidelines for reported data. Open Access publication fees. Data deposition and release. March 2017, 3 (2). Accelerating personalized medicine with functional genomics. Variant in early-onset mitochondrial disease. Fusion in pleomorphic xanthoastrocytoma.
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation
http://molecularcasestudies.cshlp.org/content/3/1/a001156.full
Skip to main page content. Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo. Stephanie C. Bourne. Katelin N. Townsend. Scott A. Lear. Wyeth W. Wasserman. William T. Gibson. Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada;. Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada;. AIM Medical Imaging, Vancouver, British Columbia V6H 1C9, Canada;. The O...
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Skip to main page content. Head - Advertising Sales and Sponsorship Advertising Account Manager / Classified Advertising Manager. March 2017, 3 (2). Accelerating personalized medicine with functional genomics. Variant in early-onset mitochondrial disease. Fusion in pleomorphic xanthoastrocytoma.
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MSeqDR and Genomic Discovery in Mitochondrial Disease News and Progress
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A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR News and Progress in Genomic Discovery in Mitochondrial Disease. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Hum Mutat. 2016 Jun;37(6):540-8. doi: 10.1002/humu.22974. Epub 2016 Mar 21. COMMENTARY: From case studies to community knowledge base: MSeqDR. Find out ...
MSeqDR ~ Accelerating Genomic Discovery in Mitochondrial Diseases
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A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium. A global effort, 100 mitochondrial disease experts. Data for rare diseases. Patients and causative mutations. Designed for mitochondrial diseases and mtDNA mutations. Proven rare disease gene discovery platform at GEM.app. With family level data mining. CSH Molecular Case Studies.
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Molecular Case Studies, a Journal of Precision Medicine
Skip to main page content. Cold Spring Harbor Perspectives in Biology. Cold Spring Harbor Perspectives in Medicine. Cold Spring Harbor Protocols. Cold Spring Harbor Symposia. Books and Other Media. Sign Up for Alerts and RSS Feeds. Pharmacologic treatment of progeroid patient fibroblasts. Mutation causes severe peripheral neuropathy. An Interview with Editor-in-Chief Elaine Mardis. Richard Sever interviews Editor-in-Chief Elaine Mardis. Follow us on Twitter. Cold Spring Harbor Molecular Case Studies.
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Molecular Case Studies
CSH Molecular Case Studies. Is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal's purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. Linked to previous observations.
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