Rare

Published by Elsevier

Open access · CC BY-NC-ND · In DOAJ · Netherlands · Genomics and Rare Diseases

Journal at a glance

ISSN

2950-0087

Publisher

Elsevier

Country

Netherlands

Language

en

License

CC BY-NC-ND

Also known as: Rare (Amsterdam, Netherlands) (Alternate title)

Indexing

• DOAJ: Active

Metrics

Subjects

• Genomics and Rare Diseases
• Genetics and Neurodevelopmental Disorders
• Autism Spectrum Disorder Research
• Genomic variations and chromosomal abnormalities
• BRCA gene mutations in cancer
• Neurogenetic and Muscular Disorders Research
• Health Systems, Economic Evaluations, Quality of Life
• Medicine
• Science: Biology (General): Genetics

Articles on PubPorta

The most recent records PubPorta holds for this journal.

• From unsolved to diagnosed: the Undiagnosed Hackathon and functional validation establish RRAS2-related Noonan syndrome (2026)
• Qualitative needs assessment of financial impact on caregivers of children living with rare diseases (2026)
• Refining tiered genomic diagnostics in post-termination fetal analysis: Towards standardised interpretative frameworks in rare disease genomics (2026)
• Unusual variants in NDUFAF6-associated mitochondrial disease (2026)
• Genetic testing aids diagnosis in post mid-trimester pregnancy termination of anomalous fetuses (2026)

Similar journals

• Psychiatric genetics — United States · — · Same subject: Autism Spectrum Disorder Research, Same subject: Genetics and Neurodevelopmental Disorders, 3 shared subjects in total
• Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V — Germany · — · Same subject: Genetics and Neurodevelopmental Disorders, Same subject: Genomic variations and chromosomal abnormalities, 3 shared subjects in total
• Journal of pediatric genetics — Kingdom of the Netherlands · — · Same subject: Genetics and Neurodevelopmental Disorders, Same subject: Genomic variations and chromosomal abnormalities, 3 shared subjects in total
• Genomic medicine — Kingdom of the Netherlands · — · Same subject: BRCA gene mutations in cancer, Same subject: Genomic variations and chromosomal abnormalities, 3 shared subjects in total
• World journal of medical genetics — United States · Open access · Same subject: BRCA gene mutations in cancer, Same subject: Genomic variations and chromosomal abnormalities, 3 shared subjects in total
• Human mutation — United States · — · Same subject: Genomic variations and chromosomal abnormalities, Same subject: Genomics and Rare Diseases

Sources: DOAJ, NLM Catalog, OpenAlex, Crossref

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