List of bibliographic references
Number of relevant bibliographic references: 2.
List of associated KwdEn.i
Nombre de
documents | Descripteur |
|---|
| 2 | Female |
| 2 | Humans |
| 2 | Male |
| 2 | Mutation, Missense |
| 1 | Abnormalities, Multiple (genetics) |
| 1 | Adolescent |
| 1 | Adult |
| 1 | Animals |
| 1 | CHO Cells |
| 1 | Child |
| 1 | Child, Preschool |
| 1 | Codon, Nonsense |
| 1 | Costello Syndrome (genetics) |
| 1 | Costello Syndrome (pathology) |
| 1 | Craniofacial Abnormalities (genetics) |
| 1 | Cricetinae |
| 1 | Cricetulus |
| 1 | Ectodermal Dysplasia (genetics) |
| 1 | Ectodermal Dysplasia (pathology) |
| 1 | Ether-A-Go-Go Potassium Channels (genetics) |
| 1 | Facies |
| 1 | Failure to Thrive (genetics) |
| 1 | Failure to Thrive (pathology) |
| 1 | Fibromatosis, Gingival (genetics) |
| 1 | GTP Phosphohydrolases (genetics) |
| 1 | Genetic Association Studies |
| 1 | Genotype |
| 1 | Germ-Line Mutation |
| 1 | Hand Deformities, Congenital (genetics) |
| 1 | Heart Defects, Congenital (genetics) |
| 1 | Heart Defects, Congenital (pathology) |
| 1 | Infant |
| 1 | Infant, Newborn |
| 1 | Membrane Potentials |
| 1 | Membrane Proteins (genetics) |
| 1 | Models, Molecular |
| 1 | Noonan Syndrome (genetics) |
| 1 | Noonan Syndrome (pathology) |
| 1 | Pedigree |
| 1 | Phenotype |
| 1 | Protein Conformation |
| 1 | Vacuolar Proton-Translocating ATPases (genetics) |
| 1 | Xenopus laevis |
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