Literature DB >> 30306068

Rare diseases: the paradox of an emerging challenge.

Elisa Danese1, Giuseppe Lippi1.   

Abstract

Year:  2018        PMID： 30306068      PMCID： PMC6174191          DOI： 10.21037/atm.2018.09.04

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN： 2305-5839


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Review 1.  New trend in the epidemiology of thalassaemia.

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Journal:  Best Pract Res Clin Obstet Gynaecol       Date:  2016-10-26       Impact factor: 5.237

2.  Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.

Authors:  Dong Li; Lifeng Tian; Hakon Hakonarson
Journal:  Ann Transl Med       Date:  2018-04

3.  Biomarker research and leading causes of death worldwide: a rather feeble relationship.

Authors:  Giuseppe Lippi; Mario Plebani
Journal:  Clin Chem Lab Med       Date:  2013-09       Impact factor: 3.694

4.  Is Google Trends a reliable tool for digital epidemiology? Insights from different clinical settings.

Authors:  Gianfranco Cervellin; Ivan Comelli; Giuseppe Lippi
Journal:  J Epidemiol Glob Health       Date:  2017-06-09
  4 in total
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Review 1.  Left to themselves: Time to target chronic pain in childhood rare diseases.

Authors:  Christine B Sieberg; Alyssa Lebel; Erin Silliman; Scott Holmes; David Borsook; Igor Elman
Journal:  Neurosci Biobehav Rev       Date:  2021-03-24       Impact factor: 8.989

2.  Genetic Testing for Rare Diseases.

Authors:  José M Millán; Gema García-García
Journal:  Diagnostics (Basel)       Date:  2022-03-25

Review 3.  Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Authors:  Arshia Angural; Akshi Spolia; Ankit Mahajan; Vijeshwar Verma; Ankush Sharma; Parvinder Kumar; Manoj Kumar Dhar; Kamal Kishore Pandita; Ekta Rai; Swarkar Sharma
Journal:  Front Genet       Date:  2020-04-30       Impact factor: 4.599

4.  Education and information needs for physicians about rare diseases in Spain.

Authors:  Enrique Ramalle-Gómara; Elena Domínguez-Garrido; María Gómez-Eguílaz; María Eugenia Marzo-Sola; José Luis Ramón-Trapero; Josefa Gil-de-Gómez
Journal:  Orphanet J Rare Dis       Date:  2020-01-17       Impact factor: 4.123
  4 in total

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