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Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Nature reviews. Drug discovery, 2020-02, Vol.19 (2), p.93-111

2020

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Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data

Advances in experimental medicine and biology, 2017, Vol.1031, p.3-21

2017

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The Rare Diseases Clinical Research Network’s Organization and Approach to Observational Research and Health Outcomes Research

Journal of general internal medicine : JGIM, 2014-08, Vol.29 (Suppl 3), p.739-744

2014

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Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Molecular genetics and metabolism, 2015-12, Vol.116 (4), p.223-225

2015

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Progress, challenges and global approaches to rare diseases

Acta Paediatrica, 2021-10, Vol.110 (10), p.2711-2716

2021

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Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis

Advances in experimental medicine and biology, 2017, Vol.1031, p.25-38

2017

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The need for worldwide policy and action plans for rare diseases

Acta Paediatrica, 2012-08, Vol.101 (8), p.805-807

2012

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Rare diseases research: expanding collaborative translational research opportunities

Chest, 2013-07, Vol.144 (1), p.16-23

Groft, Stephen C

2013

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The case for open science: rare diseases

JAMIA open, 2020-10, Vol.3 (3), p.472-486

2020

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Preparing for the Future of Rare Diseases

Advances in experimental medicine and biology, 2017, Vol.1031, p.641-648

2017

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Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

Contemporary clinical trials, 2010-09, Vol.31 (5), p.394-404

2010

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Rare Diseases Epidemiology: Update and Overview

2nd ed. 2017 edition., 2017

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How to Advance Research, Education, and Training in the Study of Rare Diseases

Gastroenterology (New York, N.Y. 1943), 2019-10, Vol.157 (4), p.917-921

2019

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Rare Diseases Research

Chest, 2013-07, Vol.144 (1), p.16-23

Groft, Stephen C., PharmD

2013

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The case for a global rare-diseases registry

The Lancet (British edition), 2011-03, Vol.377 (9771), p.1057-1059

2011

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A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)

Advances in experimental medicine and biology, 2017, Vol.1031, p.349-369

2017

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Research into rare diseases of childhood

JAMA : the journal of the American Medical Association, 2014-05, Vol.311 (17), p.1729

2014

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A past with uncertainty, a future with hope--rare disease day 2014 from a USA perspective

Orphanet journal of rare diseases, 2014-02, Vol.9 (1), p.31-31

Groft, Stephen C

2014

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Publisher Correction: Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Nature reviews. Drug discovery, 2020-04, Vol.19 (4), p.291-291

2020

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Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

Advances in experimental medicine and biology, 2017, Vol.1031, p.55-94

2017

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Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

Molecular genetics and metabolism, 2013-08, Vol.109 (4), p.319-328

2013

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Data Quality in Rare Diseases Registries

Advances in experimental medicine and biology, 2017-01, Vol.1031, p.149-164

2017

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Informed consent and patient registry for the rare disease community: Editorial

Contemporary clinical trials, 2012-01, Vol.33 (1), p.3-4

2012

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Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data

The Rare Diseases Clinical Research Network’s Organization and Approach to Observational Research and Health Outcomes Research

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Progress, challenges and global approaches to rare diseases

Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis

The need for worldwide policy and action plans for rare diseases

Rare diseases research: expanding collaborative translational research opportunities

The case for open science: rare diseases

Preparing for the Future of Rare Diseases

Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

Rare Diseases Epidemiology: Update and Overview

How to Advance Research, Education, and Training in the Study of Rare Diseases

Rare Diseases Research

The case for a global rare-diseases registry

A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)

Research into rare diseases of childhood

A past with uncertainty, a future with hope--rare disease day 2014 from a USA perspective

Publisher Correction: Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Inherited Arrhythmias : A national heart, lung, and blood institute and office of rare diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

Data Quality in Rare Diseases Registries

Informed consent and patient registry for the rare disease community: Editorial

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