List of bibliographic references
Number of relevant bibliographic references: 4.
List of associated KwdEn.i
Nombre de
documents | Descripteur |
|---|
| 4 | Humans |
| 3 | Male |
| 2 | Epilepsies, Myoclonic (genetics) |
| 2 | Epilepsy, Generalized (genetics) |
| 2 | Female |
| 2 | Pedigree |
| 1 | Adult |
| 1 | Algorithms |
| 1 | Alleles |
| 1 | Animals |
| 1 | Biological Ontologies |
| 1 | Child |
| 1 | Chromosome Breakpoints |
| 1 | Chromosome Deletion |
| 1 | Chromosome Mapping |
| 1 | Chromosomes, Human, Pair 2 |
| 1 | Codon, Nonsense |
| 1 | Computational Biology (methods) |
| 1 | Developmental Disabilities (diagnosis) |
| 1 | Developmental Disabilities (genetics) |
| 1 | Epilepsies, Myoclonic (pathology) |
| 1 | Epilepsies, Myoclonic (physiopathology) |
| 1 | Epilepsy, Generalized (diagnosis) |
| 1 | Epilepsy, Generalized (pathology) |
| 1 | Exome |
| 1 | Exons |
| 1 | Founder Effect |
| 1 | GABA Plasma Membrane Transport Proteins (genetics) |
| 1 | Genetic Association Studies (methods) |
| 1 | Genetic Heterogeneity |
| 1 | Genetic Linkage |
| 1 | Genetic Predisposition to Disease |
| 1 | Genomics (methods) |
| 1 | Genotype |
| 1 | High-Throughput Nucleotide Sequencing |
| 1 | Mice |
| 1 | Muscle, Smooth (physiopathology) |
| 1 | Mutation |
| 1 | Nuclear Receptor Subfamily 1, Group F, Member 2 (genetics) |
| 1 | Phenotype |
| 1 | Polymorphism, Single Nucleotide |
| 1 | Precision Medicine (methods) |
| 1 | Rare Diseases (diagnosis) |
| 1 | Rare Diseases (etiology) |
| 1 | Seizures (genetics) |
| 1 | Seizures (physiopathology) |
| 1 | Software |
| 1 | Syndrome |
| 1 | Translational Medical Research (methods) |
| 1 | Translocation, Genetic |
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