Concepts (186)
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.
- Abnormalities, Multiple
- Acidosis, Lactic
- Adenosine Triphosphate
- Adolescent
- Adult
- Alleles
- Amidohydrolases
- Amino Acid Metabolism, Inborn Errors
- Animals
- Arginine
- Arthrogryposis
- Asparagine
- Aspartate-Ammonia Ligase
- Asperger Syndrome
- Atrophy
- Attitude to Health
- Autistic Disorder
- Autoantigens
- Bacteria
- Binding Sites
- Biological Therapy
- Bone Diseases, Developmental
- Brain Diseases
- Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor
- Cardiomyopathies
- Carrier Proteins
- Cataract
- Child
- Child Development Disorders, Pervasive
- Child, Preschool
- Chromosome Deletion
- Chromosome Disorders
- Chromosome Mapping
- Chromosomes, Artificial, Bacterial
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 14
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 16
- Chromosomes, Human, Pair 19
- Chromosomes, Human, Pair 22
- Chromosomes, Human, Pair 7
- Chromosomes, Human, Pair 8
- Clinical Trials as Topic
- Cognition
- Cohort Studies
- Comorbidity
- Comparative Genomic Hybridization
- Consanguinity
- Consensus
- Cosmetics
- Cross-Sectional Studies
- DEAD-box RNA Helicases
- Developmental Disabilities
- Diagnosis, Differential
- Diet
- Dietary Proteins
- Disease Models, Animal
- DNA Copy Number Variations
- DNA Mutational Analysis
- DNA, Mitochondrial
- Dose-Response Relationship, Drug
- Down-Regulation
- Drug Packaging
- Drug Stability
- Endopeptidases
- Epilepsy
- Escherichia coli
- Executive Function
- Facies
- Family
- Fatty Acids, Essential
- Female
- Fibroblasts
- Fungi
- GATA4 Transcription Factor
- Gene Deletion
- Gene Duplication
- Gene Frequency
- Genetic Association Studies
- Genetic Engineering
- Genetic Linkage
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Genotype
- Germ-Line Mutation
- Glutamine
- Glycoproteins
- GTP-Binding Protein beta Subunits
- Guanosine Triphosphate
- Haploinsufficiency
- Health Education
- Health Personnel
- Heart Defects, Congenital
| - HEK293 Cells
- Heredodegenerative Disorders, Nervous System
- Herpes Simplex
- Heterozygote
- Homeostasis
- Homozygote
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Infant, Newborn
- Jaundice
- Lethargy
- Lipid Metabolism, Inborn Errors
- Liver
- Liver Diseases
- Liver Failure, Acute
- Longitudinal Studies
- Lysosomes
- Male
- Mass Screening
- Membrane Proteins
- Metals
- Methylenetetrahydrofolate Dehydrogenase (NADP)
- Mice
- Microarray Analysis
- Microcephaly
- Micronutrients
- Microsatellite Repeats
- Middle Aged
- Minor Histocompatibility Antigens
- Mitochondria
- Mitochondrial Diseases
- Mitochondrial Proteins
- Models, Molecular
- Monomeric GTP-Binding Proteins
- Muscular Diseases
- Mutation
- Mutation, Missense
- Needs Assessment
- Neonatal Screening
- Neoplastic Syndromes, Hereditary
- Nerve Tissue Proteins
- Nervous System
- Neuropeptides
- Neuropsychological Tests
- Noonan Syndrome
- Nucleic Acid Hybridization
- Nutritional Status
- Oligonucleotide Array Sequence Analysis
- Oligonucleotide Probes
- Oxidoreductases Acting on CH-CH Group Donors
- Pedigree
- Peripheral Nervous System Diseases
- Phenotype
- Phenylalanine
- Phenylalanine Ammonia-Lyase
- Phenylalanine Hydroxylase
- Phenylketonurias
- Phosphotransferases (Alcohol Group Acceptor)
- Plastics
- Polymorphism, Single Nucleotide
- Pregnancy
- Prognosis
- Program Development
- Proteasome Endopeptidase Complex
- Protein Conformation
- Protein Structure, Tertiary
- Puerto Rico
- Recombinant Proteins
- Repressor Proteins
- Retinitis Pigmentosa
- Retrospective Studies
- Ribonuclease III
- Risk Factors
- RNA-Binding Proteins
- Rodentia
- Seizures
- Sequence Deletion
- Siblings
- Spasms, Infantile
- Spherocytosis, Hereditary
- Syndrome
- Tooth Abnormalities
- Transcription Factors
- Treatment Outcome
- Tubulin
- Ubiquitin Thiolesterase
- Ubiquitins
- User-Computer Interface
- Vacuolar Proton-Translocating ATPases
- Vomiting
- Young Adult
- Zebrafish
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Concepts
(186)
Derived automatically from this person's publications.
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Co-Authors
(19)
People in Profiles who have published with this person.
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Similar People
(60)
People who share similar concepts with this person.
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Same Department
People in same department with this person.
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