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Centre for Biomedical Network Research on Rare Diseases | Researchclopedia

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Centre for Biomedical Network Research on Rare Diseases

Madrid, Madridfacility

13,350

Works

1,230,636

Citations

293

h-index

Top Research Topics

Mitochondrial Function and Pathology Genetics and Neurodevelopmental Disorders Metabolism and Genetic Disorders

Top Researchers

Richard A. Gibbs Baylor College of Medicine

1,335 works281,665 citationsh-index: 190

Recent Research

Understanding the Impact of Hypoxia on Pulmonary Artery Endothelial Cells in Chronic Thromboembolic Pulmonary Hypertension Patients

Ylenia Roger,Anna Sardiné-Rama,et al.

20260 citations

Genomics and Rare Diseases

RNA modifications and cancer

Pregnancy and preeclampsia studies

Genomic variations and chromosomal abnormalities

Lysosomal Storage Disorders Research

Genetic Neurodegenerative Diseases

CRISPR and Genetic Engineering

Neurogenetic and Muscular Disorders Research

Epigenetics and DNA Methylation

Cornelia M. van Duijn King Abdulaziz University

1,905 works251,429 citationsh-index: 238

Josep María Haro Parc Sanitari Sant Joan de Déu

1,171 works237,855 citationsh-index: 150

Eric Boerwinkle Training Programs in Epidemiology and Public Health Interventions Network

1,982 works231,665 citationsh-index: 215

Terho Lehtimäki Tampere University of Applied Sciences

1,862 works184,994 citationsh-index: 178

Rafael Tabarés‐Seisdedos Universitat de València

334 works179,322 citationsh-index: 104

Clinicopathologic and molecular predictors of survival in BRCA-deficient tubo-ovarian high-grade serous carcinoma

Tibor A. Zwimpfer,Sián Fereday,et al.

20260 citations

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1

Celine Saad,Sabine Jung-Klawitter,et al.

20260 citations

Families With Epithelial Recurrent Erosion Dystrophy From Mutations In Col17a1 Gene In Spain.

Lourdes Salgueiro Tielas,Fiona Blanco-Kelly,et al.

20260 citations

Inpatient safety, effectiveness of SGLT2 inhibitors and GLP-1 RAs in type 2 diabetes: ENDOCARE, a pragmatic prospective cohort study

Óscar Moreno-Pérez,Antonio Tejera-Muñoz,et al.

20260 citations

Sepsis accelerates frailty and functional decline in older adults: a 12-month prospective study

Ian López-Cruz,José Luis García-Giménez,et al.

20260 citations