List of bibliographic references
Number of relevant bibliographic references: 4.
List of associated KwdEn.i
Nombre de
documents | Descripteur |
|---|
| 4 | Mutation |
| 4 | Phenotype |
| 2 | Child, Preschool |
| 2 | Craniofacial Abnormalities (genetics) |
| 2 | Craniofacial Abnormalities (pathology) |
| 2 | Female |
| 2 | Genetic Association Studies |
| 2 | Genetics |
| 2 | Humans |
| 2 | Intellectual Disability (genetics) |
| 2 | Intellectual Disability (pathology) |
| 2 | Male |
| 2 | Syndrome |
| 1 | Abnormalities, Multiple (genetics) |
| 1 | Abnormalities, Multiple (metabolism) |
| 1 | Abnormalities, Multiple (pathology) |
| 1 | Abnormality |
| 1 | Anal |
| 1 | Anal atresia |
| 1 | Anal defects |
| 1 | Anomaly |
| 1 | Apparent hypertelorism |
| 1 | Blepharophimosis (diagnosis) |
| 1 | Blepharophimosis (genetics) |
| 1 | Blepharophimosis (pathology) |
| 1 | Blotting, Western |
| 1 | Cardiac |
| 1 | Cardiac defects |
| 1 | Carrier Proteins (genetics) |
| 1 | Carrier Proteins (metabolism) |
| 1 | Carrier mother |
| 1 | Cell Line |
| 1 | Cell Proliferation (genetics) |
| 1 | Cell Transformation, Neoplastic (genetics) |
| 1 | Child |
| 1 | Cleft |
| 1 | Cleft palate |
| 1 | Clinical data |
| 1 | Congenital Hypothyroidism (diagnosis) |
| 1 | Congenital Hypothyroidism (genetics) |
| 1 | Congenital Hypothyroidism (pathology) |
| 1 | Corpus callosum |
| 1 | Craniofacial Abnormalities (diagnosis) |
| 1 | Craniofacial Abnormalities (metabolism) |
| 1 | DNA Mutational Analysis |
| 1 | Defect |
| 1 | Developmental delay |
| 1 | Diagnosis, Differential |
| 1 | Exome |
| 1 | Exon |
| 1 | Exons |
| 1 | Facies |
| 1 | Falco |
| 1 | Family history |
| 1 | Female carriers |
| 1 | Frameshift deletion |
| 1 | Gaudenz |
| 1 | Gene Expression |
| 1 | Gene Expression Profiling |
| 1 | Genet |
| 1 | Genetic Predisposition to Disease (genetics) |
| 1 | Genotype |
| 1 | Germ-Line Mutation |
| 1 | HEK293 Cells |
| 1 | Hand Deformities, Congenital (genetics) |
| 1 | Hand Deformities, Congenital (metabolism) |
| 1 | Hand Deformities, Congenital (pathology) |
| 1 | Heart Defects, Congenital (diagnosis) |
| 1 | Heart Defects, Congenital (genetics) |
| 1 | Heart Defects, Congenital (pathology) |
| 1 | Hematologic Neoplasms (genetics) |
| 1 | Hematologic Neoplasms (metabolism) |
| 1 | Hematologic Neoplasms (pathology) |
| 1 | Histone Acetyltransferases (genetics) |
| 1 | Human |
| 1 | Human genetics |
| 1 | Hypertelorism |
| 1 | Hypospadias |
| 1 | Imperforate anus |
| 1 | Infant |
| 1 | Infant, Newborn |
| 1 | Intellectual Disability (diagnosis) |
| 1 | Intellectual Disability (metabolism) |
| 1 | Joint Instability (diagnosis) |
| 1 | Joint Instability (genetics) |
| 1 | Joint Instability (pathology) |
| 1 | Kidney (abnormalities) |
| 1 | Kidney (pathology) |
| 1 | Male patients |
| 1 | Malformed ears |
| 1 | Medical genetics |
| 1 | Mental retardation |
| 1 | Mid1 |
| 1 | Mid1 gene |
| 1 | Mid1 mutation |
| 1 | Mid1 mutations |
| 1 | Mild phenotypes |
| 1 | Mutation analysis |
| 1 | Nails, Malformed (genetics) |
| 1 | Nails, Malformed (metabolism) |
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