X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (9) 9
humans (8) 8
rare diseases (7) 7
diagnosis (5) 5
biological ontologies (4) 4
genetics & heredity (4) 4
human phenotype ontology (4) 4
biochemistry & molecular biology (3) 3
care and treatment (3) 3
databases, factual (3) 3
genomics (3) 3
interoperability (3) 3
medicine (3) 3
phenotype (3) 3
precision medicine (3) 3
software (3) 3
algorithms (2) 2
amino acid sequence (2) 2
amyloid precursor protein secretases (2) 2
animals (2) 2
cell line (2) 2
cells (2) 2
classification (2) 2
computational biology (2) 2
computational biology - methods (2) 2
database issue (2) 2
databases (2) 2
discovery (2) 2
endopeptidases (2) 2
eye diseases (2) 2
genetic association studies (2) 2
genetics (2) 2
history & philosophy of science (2) 2
matchmaker exchange (2) 2
medicine, research & experimental (2) 2
membrane proteins - metabolism (2) 2
methods (2) 2
neurosciences (2) 2
ontology (2) 2
oral presentation (2) 2
platform (2) 2
precision medicine - methods (2) 2
rare diseases - classification (2) 2
rare diseases - diagnosis (2) 2
rare diseases - genetics (2) 2
receptors, notch (2) 2
translational medical research (2) 2
usage (2) 2
[ sdv.bc ] life sciences [q-bio]/cellular biology (1) 1
[sdv.bc] life sciences [q-bio]/cellular biology (1) 1
a-beta (1) 1
alpha-interferon (1) 1
alpha-secretase (1) 1
alzheimers-disease (1) 1
amyloid beta-protein precursor - metabolism (1) 1
amyloid precursor protein (1) 1
analysis (1) 1
antibodies (1) 1
aph-1 (1) 1
aspartic acid endopeptidases (1) 1
aspartic acid endopeptidases - deficiency (1) 1
aspartic acid endopeptidases - metabolism (1) 1
base sequence (1) 1
basic biological sciences (1) 1
beta-app (1) 1
candidate genes (1) 1
cell biology (1) 1
cell membranes (1) 1
cellular biology (1) 1
challenges (1) 1
child development deviations (1) 1
cleavage (1) 1
cloning, molecular (1) 1
coding (1) 1
collaboration (1) 1
commentary (1) 1
community engagement (1) 1
complementation cloning (1) 1
complex (1) 1
computational biology - trends (1) 1
computer applications (1) 1
controlled vocabulary (1) 1
database (1) 1
developmental disabilities (1) 1
developmental disorders (1) 1
differential (1) 1
disease (1) 1
disease modeling (1) 1
disease-gene-discovery (1) 1
dk/atira/pure/subjectarea/asjc/1300/1311 (1) 1
dna primers (1) 1
end (1) 1
endocytosis (1) 1
endopeptidases - metabolism (1) 1
enzymes (1) 1
epileptic encephalopathy (1) 1
evidence-based medicine (1) 1
evidence-based precision medicine (1) 1
exome (1) 1
exome - genetics (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human Mutation, ISSN 1059-7794, 05/2012, Volume 33, Issue 5, pp. 803 - 808
Rare disorders are scarcely represented in international classifications and therefore invisible in information systems. One of the major needs in health... 
Rare diseases | Nosology | Ontology | Interoperability | Classification | Relational database | rare diseases | nosology | GENETICS & HEREDITY | interoperability | relational database | classification | ontology | Terminology as Topic | Online Systems | Humans | Rare Diseases - classification | Databases, Factual | Information Dissemination | Index Medicus
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2019, Volume 14, Issue 1, pp. 200 - 200
Professor Michael Larsen, who is a member of the ERN-EYE Ontology Study Group and co-chair of Workgroup on Retinal Rare Eye Diseases (WG1), was inadvertently... 
Eye diseases | Genetic aspects | Index Medicus
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 11/2014, Volume 9, Issue 1, pp. 1 - 2
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 7/2004, Volume 166, Issue 1, pp. 73 - 83
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 11/2014, Volume 9, Issue 1, pp. O11 - O11
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 695 - 705
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2019, Volume 47, Issue D1, pp. D1018 - D1027
Abstract The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of... 
PLATFORM | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | RD-CONNECT | DISEASE | DATABASES | MUTATIONS | DISCOVERY | TOOL | Database Issue
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 08/2005, Volume 280, Issue 31, p. 28564
Several type I integral membrane proteins, such as the Notch receptor or the amyloid precursor protein, are cleaved in their intramembrane domain by a... 
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 11/2004, Volume 167, Issue 3, p. 563
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 11/2004, Volume 167, Issue 3, pp. 563 - 563
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 11/2004, Volume 167, Issue 3, pp. 563 - 563
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 07/2004, Volume 166, Issue 1, p. 73
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2017, Volume 45, Issue 1, pp. D865 - d876
Journal Article
CEUR Workshop Proceedings, ISSN 1613-0073, 2011, Volume 833, pp. 241 - 243
Conference Proceeding
22emes Journees Francophones d'Ingenierie des Connaissances, IC 2011, 2011
Conference Proceeding
European Journal of Medical Genetics, ISSN 1769-7212, 11/2018, Volume 61, Issue 11, pp. 706 - 714
HIPBI-RD (Harmonising phenomics information for a better interoperability in the rare disease field) is a three-year project which started in 2016 funded via... 
Diagnosis | Biological ontologies | Controlled vocabulary | Differential | Knowledge bases | DATABASE | GENETICS & HEREDITY | HUMAN PHENOTYPE ONTOLOGY | Rare Diseases - genetics | Exome - genetics | Phenotype | Humans | Computational Biology - trends | Rare Diseases - pathology | Software | Databases, Factual | Analysis | Interoperability | Index Medicus
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.