List of bibliographic references
Number of relevant bibliographic references: 7.
List of associated KwdEn.i
Nombre de
documents | Descripteur |
|---|
| 4 | Humans |
| 3 | Child |
| 3 | Child, Preschool |
| 3 | Female |
| 3 | Male |
| 3 | Mutation |
| 2 | Epilepsy (genetics) |
| 2 | Infant |
| 2 | Intellectual Disability (genetics) |
| 1 | Adolescent |
| 1 | Alain verloes |
| 1 | American guidance service |
| 1 | Amino Acid Sequence |
| 1 | Andrew futreal |
| 1 | Animals |
| 1 | Asthenic habitus |
| 1 | Astrid richard |
| 1 | Behavioural |
| 1 | Behavioural disturbances |
| 1 | Brain Diseases (genetics) |
| 1 | Broad thumbs |
| 1 | Caenorhabditis elegans |
| 1 | Callosum |
| 1 | Centile |
| 1 | Chromosome Deletion |
| 1 | Chromosomes, Human, Pair 1 |
| 1 | Cindy skinner |
| 1 | Circle pines |
| 1 | Clinical findings |
| 1 | Clinical manifestations |
| 1 | Conserved Sequence |
| 1 | Corpus callosum |
| 1 | Differential diagnosis |
| 1 | Emotional lability |
| 1 | Ether-A-Go-Go Potassium Channels (chemistry) |
| 1 | Ether-A-Go-Go Potassium Channels (genetics) |
| 1 | Ether-A-Go-Go Potassium Channels (physiology) |
| 1 | Exons (genetics) |
| 1 | FG syndrome, Opitz–Kaveggia syndrome |
| 1 | Facial appearance |
| 1 | Family environment |
| 1 | Family study |
| 1 | Fryns |
| 1 | Fryns syndrome |
| 1 | Gene |
| 1 | Gene encoding |
| 1 | Gene mutations |
| 1 | Genet |
| 1 | Genetics |
| 1 | Genome, Human (genetics) |
| 1 | Genome-Wide Association Study (methods) |
| 1 | Genotype |
| 1 | Group home |
| 1 | HEK293 Cells |
| 1 | Habitus |
| 1 | Hallux (abnormalities) |
| 1 | Heterogeneous-Nuclear Ribonucleoproteins (genetics) |
| 1 | Hiba risheg |
| 1 | Human |
| 1 | Human genetics |
| 1 | Hyperextensible |
| 1 | Hyperextensible digits |
| 1 | Hyperextensible joints |
| 1 | Hypernasal |
| 1 | Hypernasal speech |
| 1 | Hypotonia |
| 1 | IQ, intelligence quotient |
| 1 | Infant, Newborn |
| 1 | Intelligence quotient |
| 1 | K8295, kindred 8295 |
| 1 | Legal guardians |
| 1 | Long hands |
| 1 | Lucy raymond |
| 1 | Lujan |
| 1 | Lujan syndrome |
| 1 | MED12, mediator of RNA polymerase II transcription subunit 12 |
| 1 | Macrocephaly |
| 1 | Major findings |
| 1 | Marfanoid |
| 1 | Marfanoid habitus |
| 1 | Maxillary hypoplasia |
| 1 | Mediator |
| 1 | Mental retardation |
| 1 | Missense mutation |
| 1 | Molecular Sequence Data |
| 1 | Mosaicism |
| 1 | Mutation (genetics) |
| 1 | Mutation, Missense |
| 1 | Nails, Malformed (genetics) |
| 1 | Narrow face |
| 1 | Narrow palate |
| 1 | Nasal root |
| 1 | Neoplasms, Second Primary (etiology) |
| 1 | Neurodevelopmental Disorders (genetics) |
| 1 | Noonan Syndrome (complications) |
| 1 | Noonan Syndrome (genetics) |
| 1 | Noonan Syndrome (metabolism) |
| 1 | Novel missense mutation |
| 1 | Oocytes |
| 1 | Open mouth |
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