Results 11 to 20 of about 15,235 (121)
CGMIM: Automated text-mining of Online Mendelian Inheritance in Man (OMIM) to identify genetically-associated cancers and candidate genes [PDF]
BMC Bioinformatics, 2005 Abstract Background Online Mendelian Inheritance in Man (OMIM) is a computerized database of information about genes and heritable traits in human populations, based on information reported in the scientific literature.
Chris Bajdik +4 more
semanticscholar +7 more sources
The status of online Mendelian inheritance in man (OMIM) medio 1994
Nucleic Acids Research, 1994 During the last year many changes have been introduced into the system of maintaining OMIM. There are three major components of the reorganization. First, a distributed editorial system was introduced which provides a three-tiered editorial board with senior editors, science writers and subject editors.
P. Pearson +5 more
semanticscholar +7 more sources
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) [PDF]
Human Mutation, 2011 OMIM's task of cataloging the association between human phenotypes and their causative genes (the Morbid Map of the Genome) and classifying and naming newly recognized disorders is growing rapidly. Establishing the relationship between genotype and phenotype has become increasingly complex. New technologies such as genome-wide association studies (GWAS)
Joanna Amberger +2 more
semanticscholar +4 more sources
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders [PDF]
Nucleic Acids Res., 2004 Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
Ada Hamosh
openalex +2 more sources
Online Mendelian Inheritance in Man 'OMIM'.
Indian journal of dermatology, venereology and leprology, 2007 The skin is one of the commonest organ systems involved in genetic or inherited diseases. Genodermatoses, genetic syndromes, inherited skin diseases and also inflammatory or immunological disorders with a genetic basis occupy an important part of the dermatology curriculum.
Sangeeta Amladi
+5 more sources
Corrections to: "Phenotypic and Genotypic Analyses of Genetic Skin Disease through the Online Mendelian Inheritance in Man (OMIM) Database" [PDF]
Journal of Investigative Dermatology, 2010 openalex +2 more sources
Frontiers in Cell and Developmental Biology, 2023 Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed with a rare OMIM ...
E. Colin +38 more
semanticscholar +1 more source
Frontiers in Molecular Biosciences, 2021 Human genome resequencing projects provide an unprecedented amount of data about single-nucleotide variations occurring in protein-coding regions and often leading to observable changes in the covalent structure of gene products.
Castrense Savojardo +3 more
semanticscholar +1 more source
Genes, 2021 Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders.
N. Fernàndez-Castillo +8 more
semanticscholar +1 more source