List of bibliographic references
Number of relevant bibliographic references: 5.
List of associated KwdEn.i
Nombre de
documents | Descripteur |
|---|
| 3 | Humans |
| 2 | Female |
| 2 | Male |
| 2 | Pedigree |
| 2 | Phenotype |
| 1 | Adolescent |
| 1 | Adult |
| 1 | Aldehyde Dehydrogenase (genetics) |
| 1 | Alleles |
| 1 | Arginine (metabolism) |
| 1 | Chromosome Deletion |
| 1 | Chromosome Mapping |
| 1 | Chromosomes, Human, Pair 1 |
| 1 | Chromosomes, Human, Pair 2 |
| 1 | Congenital |
| 1 | Epilepsies, Myoclonic (genetics) |
| 1 | Epilepsies, Myoclonic (physiopathology) |
| 1 | Founder Effect |
| 1 | Genetic Heterogeneity |
| 1 | Genetic Linkage |
| 1 | Genotype |
| 1 | Glutamic Acid (metabolism) |
| 1 | Heterogeneous-Nuclear Ribonucleoproteins (genetics) |
| 1 | Middle Aged |
| 1 | Mirror |
| 1 | Muscle, Smooth (physiopathology) |
| 1 | Mutation |
| 1 | Mutation (genetics) |
| 1 | Nervous system diseases |
| 1 | Neurodevelopmental Disorders (genetics) |
| 1 | Ornithine (genetics) |
| 1 | Ornithine (metabolism) |
| 1 | Polymorphism, Single Nucleotide |
| 1 | Repressor Proteins (genetics) |
| 1 | Seizures (genetics) |
| 1 | Seizures (physiopathology) |
| 1 | Spastic Paraplegia, Hereditary (genetics) |
| 1 | Spastic Paraplegia, Hereditary (metabolism) |
| 1 | Young Adult |
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