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Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1827 - 1834
Rare disease investigators constantly face challenges in identifying additional cases to build evidence for gene‐disease causality. The Matchmaker Exchange... 
novel gene | open‐source | rare disease | Matchmaker Exchange | matchbox | open-source | PLATFORM | DE-NOVO MUTATIONS | DISEASE-GENE | GENETICS & HEREDITY | PHENOTYPES | IDENTIFICATION | Scholarships | Databases
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2014, Volume 42, Issue 1, pp. D485 - D489
Understanding which are the catalytic residues in an enzyme and what function they perform is crucial to many biology studies, particularly those leading to... 
ONTOLOGY | DATABASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | RESOURCE | Enzymes - chemistry | Sequence Analysis, Protein | Catalytic Domain | Internet | Biological Ontologies | Databases, Protein | Index Medicus | III. Metabolic and signalling pathways, enzymes
Journal Article
Journal Article
Journal Article
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
Human Heredity, ISSN 0001-5652, 06/2018, Volume 83, Issue 1, p. 5
The Exomiser was launched by Robinson et al. in 2014 [1] as a freely available Java program to annotate, filter and prioritise variants from next-generation... 
Pathogenicity | Genotype & phenotype | Mitochondria | Phenotypes | Transcription | Genes | Retina | Heredity | Clinical medicine | Bioinformatics | Computer programs
Journal Article
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2017, Volume 45, Issue 1, pp. D865 - d876
Journal Article
01/2017, ISBN 9781498775984
Book Chapter