Literature DB >> 25002993

Introducing rare diseases.

Patricia Szajner1, Timur Yusufzai2.   

Abstract

Entities:  

Year:  2013        PMID： 25002993      PMCID： PMC3927484          DOI： 10.4161/rdis.24735

Source DB:  PubMed          Journal:  Rare Dis        ISSN： 2167-5511


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  1 in total

Review 1.  Emergence of pediatric rare diseases: Review of present policies and opportunities for improvement.

Authors:  Supriya Bavisetty; Wayne W Grody; Shahram Yazdani
Journal:  Rare Dis       Date:  2013-01-28
  1 in total
  4 in total

1.  Genome Editing for Rare Diseases.

Authors:  Arun Pradhan; Tanya V Kalin; Vladimir V Kalinichenko
Journal:  Curr Stem Cell Rep       Date:  2020-07-07

Review 2.  Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.

Authors:  Panayiota Papasavva; Marina Kleanthous; Carsten W Lederer
Journal:  Mol Diagn Ther       Date:  2019-04       Impact factor: 4.074

3.  Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Authors:  Elias L Salfati; Emily G Spencer; Sarah E Topol; Evan D Muse; Manuel Rueda; Jonathan R Lucas; Glenn N Wagner; Steven Campman; Eric J Topol; Ali Torkamani
Journal:  Genome Med       Date:  2019-12-17       Impact factor: 11.117

Review 4.  Genome editing for primary immunodeficiencies: A therapeutic perspective on Wiskott-Aldrich syndrome.

Authors:  Asma Naseem; Zohar Steinberg; Alessia Cavazza
Journal:  Front Immunol       Date:  2022-08-18       Impact factor: 8.786
  4 in total

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