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IJERPH, Vol. 19, Pages 6057: Rare Diseases in the Educational Field: Knowledge and Perceptions of Spanish Teachers

IJERPH, Vol. 19, Pages 6057: Rare Diseases in the Educational Field: Knowledge and Perceptions of Spanish Teachers

Biomedicines, Vol. 10, Pages 1140: Adeno-Associated Viruses for Modeling Neurological Diseases in Animals: Achievements and Prospects

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Chili pepper intake and all-cause and disease-specific mortality

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

IJMS, Vol. 23, Pages 5430: Effects of Rare Phytocannabinoids on the Endocannabinoid System of Human Keratinocytes

Massive single-cell atlas across human tissues highlights cell types where disease genes are active

A Rare Case of the Coexistence of Pancreaticobiliary Maljunction and Gastrointestinal Tumor in Neurofibromatosis Type 1

Disease Genes in the Gut Microbiota

Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections

Genes, Vol. 13, Pages 838: Rare Variant Analysis and Molecular Dynamics Simulation in Alzheimer’s Disease Identifies Exonic Variants in FLG

Orphan Nuclear Receptor NR4A2 Is Constitutively Expressed in Cartilage and Upregulated in Inflamed Synovium From hTNF-Alpha Transgenic Mice

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

Rare papular presentation of an elastofibromatous lesion of the alveolar mucosa

Children, Vol. 9, Pages 710: The Transition to Adulthood for Youth Living with Rare Diseases

Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations

Cancers, Vol. 14, Pages 2276: Association of Rare Immune-Related Adverse Events to Survival in Advanced Cancer Patients Treated with Immune Checkpoint Inhibitors: A Real-World Single-Center Cohort Study

Changes In Catastrophic Health Expenditures For Major Diseases After A 2013 Health Insurance Expansion In South Korea

Cells, Vol. 11, Pages 1571: Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies

A Rare Case of Systemic Lupus Erythematosus Manifesting as Genital Ulcers

Adult-Onset Anti-Citrullinated Peptide Antibody-Negative Destructive Rheumatoid Arthritis Is Characterized by a Disease-Specific CD8+ T Lymphocyte Signature

Bloodstream infections among children with juvenile idiopathic arthritis: a prospective study from the onset of disease

Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs

Systematic search for rare variants in Finnish early-onset colorectal cancer patients

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.

Rare germline copy number variants (CNVs) and breast cancer risk

Disease expression in juvenile polyposis syndrome : a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

Orphan Peripheral Neuropathies.

Orphan Medicine Incentives: How to Address the Unmet Needs of Rare Disease Patients by Optimizing the European Orphan Medicinal Product Landscape Guiding Principles and Policy Proposals by the European Expert Group for Orphan Drug Incentives (OD Expe

Orphan Drugs, Compounded Medication and Pharmaceutical Commons

Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank

Rare and private spliceosomal gene mutations drive partial, complete, and dual phenocopies of hotspot alterations.

Network propagation of rare variants in Alzheimer’s disease reveals tissue-specific hub genes and communities

Rare disease research on ScienceOpen

The line between COVID-19 pandemic and rare bone diseases.

Rare and Undiagnosed Disease Research Biorepository

Rare anemias in adolescents

Rare disease care pathways in the EU: from odysseys and labyrinths towards highways

Rare presentations of primary amyloidosis as ptosis: a case report