List of bibliographic references
Number of relevant bibliographic references: 2.
List of associated KwdEn.i
Nombre de
documents | Descripteur |
|---|
| 2 | Mutation |
| 1 | Abnormalities, Multiple (genetics) |
| 1 | Abnormalities, Multiple (metabolism) |
| 1 | Abnormalities, Multiple (pathology) |
| 1 | Barth syndrome |
| 1 | Blotting, Western |
| 1 | Carrier Proteins (genetics) |
| 1 | Carrier Proteins (metabolism) |
| 1 | Caucasian origin |
| 1 | Cdna |
| 1 | Cell Line |
| 1 | Cell Proliferation (genetics) |
| 1 | Cell Transformation, Neoplastic (genetics) |
| 1 | Child |
| 1 | Child, Preschool |
| 1 | Common haplotype |
| 1 | Complete medium |
| 1 | Cpt2 |
| 1 | Cpt2 activity |
| 1 | Craniofacial Abnormalities (genetics) |
| 1 | Craniofacial Abnormalities (metabolism) |
| 1 | Craniofacial Abnormalities (pathology) |
| 1 | Deleterious nature |
| 1 | Deletion |
| 1 | Dual roles |
| 1 | Early childhood |
| 1 | Exon |
| 1 | Fasting |
| 1 | Fatty acid oxidation |
| 1 | Febrile illnesses |
| 1 | Female |
| 1 | Founder effect |
| 1 | Gene Expression Profiling |
| 1 | Gene expression |
| 1 | Genetic Association Studies |
| 1 | Genetic Predisposition to Disease (genetics) |
| 1 | Genomic |
| 1 | Germ-Line Mutation |
| 1 | Glucose |
| 1 | HEK293 Cells |
| 1 | Hand Deformities, Congenital (genetics) |
| 1 | Hand Deformities, Congenital (metabolism) |
| 1 | Hand Deformities, Congenital (pathology) |
| 1 | Hba1c level |
| 1 | Hematologic Neoplasms (genetics) |
| 1 | Hematologic Neoplasms (metabolism) |
| 1 | Hematologic Neoplasms (pathology) |
| 1 | High frequency |
| 1 | Humans |
| 1 | Infant |
| 1 | Infant, Newborn |
| 1 | Intellectual Disability (genetics) |
| 1 | Intellectual Disability (metabolism) |
| 1 | Intellectual Disability (pathology) |
| 1 | Intragenic |
| 1 | Intragenic deletion |
| 1 | Intragenic lpin1 deletion |
| 1 | Lipid |
| 1 | Lipid metabolism |
| 1 | Local anaesthetic |
| 1 | Long range |
| 1 | Lpin1 |
| 1 | Lpin1 gene |
| 1 | Lpin1 intragenic deletion |
| 1 | Lpin1 mutations |
| 1 | Lxxil motifs |
| 1 | Major cause |
| 1 | Male |
| 1 | Metabolic |
| 1 | Metabolic diseases |
| 1 | Metabolic investigations |
| 1 | Mitochondrial |
| 1 | Multiple roles |
| 1 | Muscle biopsy |
| 1 | Myoglobinuria |
| 1 | Myoglobinuric patients |
| 1 | Nails, Malformed (genetics) |
| 1 | Nails, Malformed (metabolism) |
| 1 | Nails, Malformed (pathology) |
| 1 | Necker hospital |
| 1 | Nonsense mutations |
| 1 | Novel cause |
| 1 | Nuclear Proteins (genetics) |
| 1 | Nuclear Proteins (metabolism) |
| 1 | Pah1 |
| 1 | Pah1 cells |
| 1 | Pah1 yeast strain |
| 1 | Phenotype |
| 1 | Phospholipid |
| 1 | Plasmid encoding |
| 1 | Reue |
| 1 | Rhabdomyolysis |
| 1 | Severe myoglobinuria |
| 1 | Severe rhabdomyolysis |
| 1 | Skeletal muscle |
| 1 | Skeletal muscle biopsy |
| 1 | Wild type cells |
| 1 | Yeast |
| 1 | Yeast cells |
| 1 | Yeast complementation assay |
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