List of bibliographic references
Number of relevant bibliographic references: 5.
List of associated KwdEn.i
Nombre de
documents | Descripteur |
|---|
| 3 | Mutation |
| 2 | Genetics |
| 2 | Phenotype |
| 1 | Adolescent |
| 1 | Adult |
| 1 | Allele |
| 1 | Alleles |
| 1 | Anomaly |
| 1 | Autoantibodies (biosynthesis) |
| 1 | Autoimmune Diseases (genetics) |
| 1 | Autoimmune Diseases (immunology) |
| 1 | Autoimmune Diseases (pathology) |
| 1 | Bone and Bones (immunology) |
| 1 | Bone and Bones (pathology) |
| 1 | Brain (immunology) |
| 1 | Brain (pathology) |
| 1 | Capillary malformation |
| 1 | Child |
| 1 | Child, Preschool |
| 1 | Clinical diagnosis |
| 1 | Dermatology |
| 1 | Dhplc |
| 1 | Dominant character |
| 1 | Eerola |
| 1 | Exon |
| 1 | Family history |
| 1 | Family members |
| 1 | Female |
| 1 | Galen aneurysmal malformation |
| 1 | Gene Expression |
| 1 | Genet |
| 1 | Genotype |
| 1 | Germline |
| 1 | Germline mutation |
| 1 | Germline rasa1 mutation |
| 1 | Halo |
| 1 | Hereditary |
| 1 | Hereditary hemorrhagic telangiectasia |
| 1 | Hershkovitz |
| 1 | Hospital sant joan |
| 1 | Human mutation |
| 1 | Humans |
| 1 | Index patients |
| 1 | Intellectual Disability (genetics) |
| 1 | Intellectual Disability (immunology) |
| 1 | Intellectual Disability (pathology) |
| 1 | Interferon Type I (genetics) |
| 1 | Interferon Type I (immunology) |
| 1 | Lesion |
| 1 | Lupus Erythematosus, Systemic (genetics) |
| 1 | Lupus Erythematosus, Systemic (immunology) |
| 1 | Lupus Erythematosus, Systemic (pathology) |
| 1 | Male |
| 1 | Malformation |
| 1 | Multifocal |
| 1 | Osteochondrodysplasias (genetics) |
| 1 | Osteochondrodysplasias (immunology) |
| 1 | Osteochondrodysplasias (pathology) |
| 1 | Parkes |
| 1 | Parkes weber lesion |
| 1 | Parkes weber syndrome |
| 1 | Pediatric dermatology |
| 1 | Pedigree |
| 1 | Phenotypic |
| 1 | Purpura, Thrombocytopenic, Idiopathic (genetics) |
| 1 | Purpura, Thrombocytopenic, Idiopathic (immunology) |
| 1 | Purpura, Thrombocytopenic, Idiopathic (pathology) |
| 1 | Rasa1 |
| 1 | Rasa1 gene |
| 1 | Rasa1 mutation |
| 1 | Rasa1 mutations |
| 1 | Rasa1 mutations cause |
| 1 | Revencu |
| 1 | Right foot |
| 1 | Silico analysis |
| 1 | Somatic |
| 1 | Syndrome |
| 1 | Tartrate-Resistant Acid Phosphatase (deficiency) |
| 1 | Tartrate-Resistant Acid Phosphatase (genetics) |
| 1 | Tartrate-Resistant Acid Phosphatase (immunology) |
| 1 | Telangiectasia |
| 1 | Thiex |
| 1 | Universite |
| 1 | Universite catholique |
| 1 | Vascular |
| 1 | Vascular lesions |
| 1 | Vascular malformation |
| 1 | Vascular malformations |
| 1 | Vikkula |
| 1 | Weber |
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