List of bibliographic references
Number of relevant bibliographic references: 7.
List of associated KwdEn.i
Nombre de
documents | Descripteur |
|---|
| 5 | Humans |
| 3 | Rare Diseases (diagnosis) |
| 2 | Female |
| 2 | Genetic Association Studies (methods) |
| 2 | International Cooperation |
| 2 | Male |
| 2 | Phenotype |
| 2 | Rare Diseases (genetics) |
| 1 | Adolescent |
| 1 | Adult |
| 1 | Algorithms |
| 1 | Biological Ontologies |
| 1 | Blood Platelet Disorders (genetics) |
| 1 | Case-Control Studies |
| 1 | Child |
| 1 | Child, Preschool |
| 1 | Computational Biology (methods) |
| 1 | Costello Syndrome (genetics) |
| 1 | Costello Syndrome (pathology) |
| 1 | DNA Copy Number Variations |
| 1 | Databases, Factual |
| 1 | Ectodermal Dysplasia (genetics) |
| 1 | Ectodermal Dysplasia (pathology) |
| 1 | Exome |
| 1 | Facies |
| 1 | Failure to Thrive (genetics) |
| 1 | Failure to Thrive (pathology) |
| 1 | GTP Phosphohydrolases (genetics) |
| 1 | Genetic Predisposition to Disease |
| 1 | Genetics, Medical (economics) |
| 1 | Genetics, Medical (organization & administration) |
| 1 | Genetics, Medical (standards) |
| 1 | Genome, Human |
| 1 | Genomics (methods) |
| 1 | Genotype |
| 1 | Germ-Line Mutation |
| 1 | Heart Defects, Congenital (genetics) |
| 1 | Heart Defects, Congenital (pathology) |
| 1 | Hemorrhage (genetics) |
| 1 | High-Throughput Nucleotide Sequencing (methods) |
| 1 | Infant |
| 1 | Infant, Newborn |
| 1 | Information Dissemination |
| 1 | Membrane Proteins (genetics) |
| 1 | Mutation |
| 1 | Mutation, Missense |
| 1 | Noonan Syndrome (genetics) |
| 1 | Noonan Syndrome (pathology) |
| 1 | Peer Review |
| 1 | Polymorphism, Single Nucleotide |
| 1 | Precision Medicine (methods) |
| 1 | Rare Diseases (etiology) |
| 1 | Rare Diseases (therapy) |
| 1 | Sequence Analysis, DNA (methods) |
| 1 | Societies, Medical |
| 1 | Software |
| 1 | Thrombosis (genetics) |
| 1 | Translational Medical Research (economics) |
| 1 | Translational Medical Research (methods) |
| 1 | Translational Medical Research (organization & administration) |
| 1 | Translational Medical Research (standards) |
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