Concepts (96)
Concepts are derived automatically from a person's publications.
In this concept 'cloud', the sizes of the concepts are based not only on the number of corresponding publications, but also how relevant the concepts are to the overall topics of the publications, how long ago the publications were written, whether the person was the first or senior author, and how many other people have written about the same topic. The largest concepts are those that are most unique to this person.
- 3-Hydroxyacyl CoA Dehydrogenases
- 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
- Abdominal Pain
- Abnormalities, Multiple
- Adolescent
- Adult
- Allosteric Site
- Alternative Splicing
- Aneuploidy
- Atrophy
- Brain
- Brain Diseases, Metabolic
- Carbamoyl-Phosphate Synthase I Deficiency Disease
- Carbohydrate Epimerases
- Cataract
- Cell Line, Tumor
- Cerebellar Ataxia
- Cerebral Ventricles
- Child
- Child, Preschool
- Choristoma
- Chromosome Disorders
- Chromosomes, Human, Pair 21
- Chromosomes, Human, Pair 5
- Cognition
- Computational Biology
- Concept Formation
- Craniofacial Abnormalities
- Diagnosis, Differential
- Disease Progression
- DNA Mutational Analysis
- Electron Transport
- Epilepsy, Complex Partial
- Escherichia coli Proteins
- Fathers
- Fatty Acids
- Feedback
- Female
- Follow-Up Studies
- Gene Duplication
- Genetic Predisposition to Disease
- Genetic Testing
- Heart Defects, Congenital
- Hepatomegaly
- Humans
- Hydroxocobalamin
- In Situ Hybridization, Fluorescence
- Infant
| - Infant, Newborn
- Intellectual Disability
- Intelligence
- Introns
- Karyotyping
- Klinefelter Syndrome
- Liver
- Longitudinal Studies
- Lung
- Magnetic Resonance Imaging
- Male
- Maple Syrup Urine Disease
- Metabolism, Inborn Errors
- Methylmalonic Acid
- Microscopy, Electron
- Middle Aged
- Mitochondria, Muscle
- Mitochondrial Diseases
- Mitochondrial Myopathies
- Mothers
- Muscle Fibers, Skeletal
- Muscle, Skeletal
- Mutation, Missense
- NADH, NADPH Oxidoreductases
- Neurologic Examination
- Neurons
- Neuropsychological Tests
- Ornithine Carbamoyltransferase Deficiency Disease
- Paternal Age
- Phenotype
- Phenylalanine
- Phenylketonurias
- Point Mutation
- Problem Solving
- Regression Analysis
- Rett Syndrome
- RNA, Messenger
- Severity of Illness Index
- Sialic Acid Storage Disease
- Spermatozoa
- Spinocerebellar Degenerations
- Syndrome
- Transcription, Genetic
- Transfection
- Verbal Behavior
- Vitamin B 12
- X Chromosome
- Y Chromosome
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Derived automatically from this person's publications.
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People in Profiles who have published with this person.
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People who share similar concepts with this person.
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