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Open Access Review
Open Access Review

The Australian landscape of newborn screening in the genomics era

Open Access Review
Open Access Review

Pharmacovigilance of gene therapy medicinal products

This article belongs to the Special Issue Topic: Gene Therapy in Rare Diseases
Open Access Review
Open Access Review

Rare diseases with temporomandibular joint manifestations: a systematic review

Open Access Original Article
Open Access Original Article

2017-2023: state of the art of gene therapies in rare diseases in Europe: the dynamics of clinical R&D, new approved treatments and expected therapies in the pipelines

This article belongs to the Special Issue Topic: Gene Therapy in Rare Diseases
Open Access Review
Open Access Review

Federated learning for rare disease detection: a survey

Open Access Review
Open Access Review

Development of newborn screening policies in Spain 2003-2022: what do we actually need to reach an agreement?

Open Access Review
Open Access Review

Molecular mechanisms for targeted treatments in fragile X syndrome

This article belongs to the Special Issue Topic: Treatment in Autism Spectrum Disorder
Open Access Original Article
Open Access Original Article

Next-generation sequencing-based newborn screening initiatives in Europe: an overview

Open Access Case Report
Open Access Case Report

Factors influencing pulmonary arterial pressure in three related patients with Cantú syndrome: glyburide may provide precision care

Open Access Opinion
Open Access Opinion

Could federated data analysis be the catalyst accelerating the introduction of newborn genome screening for the detection of genetic disease?

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Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/