OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
暂无分享,去创建一个
François Schiettecatte | Alan F. Scott | Ada Hamosh | Joanna S. Amberger | Carol A. Bocchini | A. F. Scott | J. Amberger | C. Bocchini | A. Hamosh | F. Schiettecatte
[1] Ronald Cornet. Definitions and qualifiers in SNOMED CT. , 2009, Methods of information in medicine.
[2] R. Hennekam,et al. Elements of morphology: Introduction , 2009, American journal of medical genetics. Part A.
[3] Olivier Bodenreider,et al. The Unified Medical Language System (UMLS): integrating biomedical terminology , 2004, Nucleic Acids Res..
[4] Carol A. Bocchini,et al. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) , 2011, Human mutation.
[5] Nicolette de Keizer,et al. Forty years of SNOMED: a literature review , 2008, BMC Medical Informatics Decis. Mak..
[6] D. Valle,et al. PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features , 2013, Human mutation.
[7] J. Mulvihill,et al. A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents , 2012, Genetics in Medicine.
[8] Brett J. Kennedy,et al. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. , 2014, American journal of human genetics.
[9] Deanna M. Church,et al. ClinVar: public archive of relationships among sequence variation and human phenotype , 2013, Nucleic Acids Res..
[10] Damian Smedley,et al. Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases , 2014, Bioinform..