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Orphanet | Researchclopedia

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Orphanet

Parisother

169

Works

33,937

Citations

73

h-index

Top Research Topics

Genomics and Rare Diseases Biomedical Text Mining and Ontologies Genomic variations and chromosomal abnormalities

Top Researchers

Hanns Lochmüller University of Ottawa

1,556 works38,322 citationsh-index: 100

Recent Research

Coding systems and monitoring practices across the ERN ReCONNET: insights from a comprehensive survey and unmet needs

Matilde Bandeira,Diana Marinello,et al.

20260 citations

Cancer Genomics and Diagnostics

Cystic Fibrosis Research Advances

Health Systems, Economic Evaluations, Quality of Life

Stress Responses and Cortisol

Ovarian function and disorders

CRISPR and Genetic Engineering

Scientific Computing and Data Management

BRCA gene mutations in cancer

Bioinformatics and Genomic Networks

Yves Dauvilliers Inserm

1,064 works37,823 citationsh-index: 104

Isabelle Arnulf Centre National de la Recherche Scientifique

762 works28,543 citationsh-index: 88

Jean Donadieu Sorbonne Université

454 works21,198 citationsh-index: 75

Stéphane Hunot Centre National de la Recherche Scientifique

96 works20,623 citationsh-index: 43

Kunihiro Nishimura National and University Library "St. Kliment of Ohrid"

834 works14,965 citationsh-index: 54

The Orphanet Nomenclature and Classification of rare diseases: a standard terminology for improved patient recognition and data interoperability

Caterina Lucano,David Lagorce,et al.

20251 citations

Revised Orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD)

Ferdinand Dhombres,Timothée De Saint-Denis,et al.

20250 citations

Extending the Patient Summary for Rare Disease and Rare Cancers in the EHDS

Annalisa Trama,Ana Rath,et al.

20250 citations

Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products

20241 citations

The policies of the democratic government of India on the management of rare diseases

Thorakkal Shamim

20241 citations